hg19 LOSS chr16-28786642-29061036

Length (hg19) : 274,394 bases - Length (hg38) : 274,394 bases

CNV-Hub AChro-Puce
PIEV

Variation found in the list of recurrent CNVs known to be predisposing factors for neurodevelopmental disorders (NDD) established by the French working group AChro-Puce.
PIEV (16p11.2 distale)

De novo or inherited from symptomatic parent

Inherited from asymptomatic parent

Unknown

AChro-Puce Criteria taken into account¹

Class

1

At least 3 occurrences in DGV / DGV-Gold > 80 % overlaps

Class

2 Major

CNV inherited from Asymptomatic parent

Class

2 Major

At least 1 occurrence in DGV / DGV-Gold > 80 % overlaps

Class

4 Major

De novo CNV or inherited from Symptomatic parent

Class

4 Major

At least one occurrence in patients databases as pathogenic or likely pathogenic

Class

4 Major

Haploinsufficient gene

Class

4 Minor

CNV more frequent in Coe & Al patient cases than in controls

Class

4 Minor

At least one occurrence in patients databases as pathogenic or likely pathogenic > 50 % overlaps

ISV²

XCNV³

ClassifyCNV ACMG⁴

AnnotSV ACMG⁵

ACMG criteria

ClassifyCNV

2A
+ 1

Complete overlap of an established HI gene/genomic region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.

AnnotSV

2A
+ 1

Complete overlap of an established HI gene/genomic region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.

Diseases :

Gene	Disease	Source	Inheritance
SH2B1	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	Orphanet	Autosomal dominant
ATP2A1	Brody myopathy	Orphanet	Autosomal dominant, Autosomal recessive
CD19	Common variable immunodeficiency	Orphanet	Autosomal dominant, Autosomal recessive, Not applicable
TUFM	Combined oxidative phosphorylation defect type 4	Orphanet	Autosomal recessive
LAT	Severe combined immunodeficiency due to LAT deficiency	Orphanet

ClinGen

0 benign CNV
0 likely benign CNV
0 uncertain CNV
2 likely pathogenic CNV
31 pathogenic CNV

70% Overlaps

Decipher

0 benign CNV
43 unknown CNV
10 uncertain CNV
33 pathogenic CNV

70% Overlaps

DGV-Gold

0

80% Overlaps

0

50% Overlaps

DGV

4

80% Overlaps

4

50% Overlaps

Coe & Al study⁶

5

Patient cases
70% Overlaps

1

Controls
70% Overlaps

Genes with pHaplo > 0.55⁷

2

ATXN2L

Genes with pTriplo > 0.68⁷

4

ATXN2L TUFM SH2B1 SPNS1

Genes in SFARI

0 Genes in OMIM

9 Sources and references

1 : AChroPuce Consortium Recommandations pour l’interpretation Clinique des CNV (Copy Number Variations) Septembre 2022.

2 : Automated prediction of the clinical impact of structural copy number variations : M. Gažiová, T. Sládeček, O. Pös, M. Števko, W. Krampl, Z. Pös, R. Hekel, M. Hlavačka, M. Kucharík, J. Radvánszky, J. Budiš & T. Szemes View article

3 : Zhang L, Shi J, Ouyang J, Zhang R, Tao Y, Yuan D, et al X CNV genome wide prediction of the pathogenicity of copy number variations Genome Med 2021 13 132.

4 : Gurbich, T.A., Ilinsky, V.V. ClassifyCNV: a tool for clinical annotation of copy-number variants. Sci Rep 10, 20375 (2020). View article

5 : Geoffroy V, Herenger Y, Kress A, et al. AnnotSV: an integrated tool for structural variations annotation. Bioinforma Oxf Engl. 2018;34(20):3572-3574. doi:10.1093/bioinformatics/bty304

6 : Coe BP, Witherspoon K, Rosenfeld JA, van Bon BWM, Vulto van Silfhout AT, Bosco P, et al Refining analyses of copy number variation identifies specific genes associated with developmental delay Nat Genet 2014 46 1063 71

7 : Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, et al A cross disorder dosage sensitivity map of the human genome Cell 2022 185 3041 3055 e 25

Not Working? You Can Delete and Recompute the CNV

1 Microdeletion and microduplication syndromes from litterature (>= 70% only)

16p11.2
Location : 28,822,635 - 29,046,499 | Size : 223,864 bases

Cases :
Ghebranious_2007
Weiss_2008
Bachmann-Gagescu_2010
Bochukova_2010
Rosenfeld_2010
Sampson_2010
Kaminsky_2011
Tabet_2012
Rosenfeld_2013

Mean Coverage : 90 %

9 OMIM Gene overlap(s)

Download genes as .csv

RABEP2 NM_024816.3 Whole gene - Size : 32,105 bases

pLI : 0 LOEUF : 0.57 sHet : 0.015 pHaplo : 0.3 pTriplo : 0.53
Location : 28,915,742 - 28,947,847

Database :

DecipherGenomics OMIM:611869 GTEx Portal Human Protein Atlas Ensembl

SH2B1 NM_001387430.1 Whole gene - Size : 27,612 bases

pLI : 1 LOEUF : 0.23 sHet : 0.101 pHaplo : 0.5 pTriplo : 0.96
Location : 28,857,921 - 28,885,533

Disease : Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:608937 Orphanet:329249 HGNC:30417 PMID:23160192 GTEx Portal Human Protein Atlas Ensembl

ATP2A1 NM_004320.6 Whole gene - Size : 26,061 bases

pLI : 0 LOEUF : 0.85 sHet : 0.005 pHaplo : 0.55 pTriplo : 0.37
Location : 28,889,726 - 28,915,787

Disease : Brody myopathy

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:108730 Orphanet:53347 HGNC:811 PMID:10914677 GTEx Portal Human Protein Atlas Ensembl

NFATC2IP NM_032815.4 Whole gene - Size : 16,285 bases

pLI : 0 LOEUF : 1.02 sHet : 0.015 pHaplo : 0.17 pTriplo : 0.66
Location : 28,962,128 - 28,978,413

Database :

DecipherGenomics OMIM:614525 GTEx Portal Human Protein Atlas Ensembl

ATXN2L NM_007245.4 Whole gene - Size : 14,238 bases

pLI : 1 LOEUF : 0.17 sHet : 0.387 pHaplo : 0.96 pTriplo : 0.98
Location : 28,834,320 - 28,848,558

Database :

DecipherGenomics PanelApp OMIM:607931 GTEx Portal Human Protein Atlas Ensembl

SPNS1 NM_032038.3 Whole gene - Size : 10,327 bases

pLI : 0.02 LOEUF : 0.6 sHet : 0.073 pHaplo : 0.07 pTriplo : 0.73
Location : 28,985,542 - 28,995,869

Database :

DecipherGenomics OMIM:612583 GTEx Portal Human Protein Atlas Ensembl

CD19 NM_001770.6 Whole gene - Size : 7,377 bases

pLI : 0.9 LOEUF : 0.35 sHet : 0.047 pHaplo : 0.4 pTriplo : 0.34
Location : 28,943,286 - 28,950,663

Disease : Common variable immunodeficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:107265 Orphanet:1572 HGNC:1633 GTEx Portal Human Protein Atlas Ensembl

LAT NM_001014987.2 Whole gene - Size : 5,958 bases

pLI : 0.02 LOEUF : 0.67 sHet : 0.042 pHaplo : 0.17 pTriplo : 0.43
Location : 28,996,147 - 29,002,105

Disease : Severe combined immunodeficiency due to LAT deficiency

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:602354 Orphanet:504523 HGNC:18874 PMID:27522155 GTEx Portal Human Protein Atlas Ensembl

TUFM NM_003321.5 Whole gene - Size : 3,937 bases

pLI : 0 LOEUF : 0.74 sHet : 0.022 pHaplo : 0.17 pTriplo : 0.89
Location : 28,853,732 - 28,857,669

Disease : Combined oxidative phosphorylation defect type 4

Source : Orphanet

Database :

DecipherGenomics PanelApp OMIM:602389 Orphanet:254925 HGNC:12420 PMID:17160893 GTEx Portal Human Protein Atlas Ensembl

17 Non-OMIM Gene overlap(s)

ENSG00000261067
Size : 15,971 bases

Location : 28,986,125 - 29,002,096

ENSG00000251417
Size : 15,085 bases

Location : 28,814,064 - 28,829,149

NFATC2IP-AS1
Size : 14,067 bases

Location : 28,964,137 - 28,978,204

NPIPB10P
Size : 14,071 bases

pLI : 0.1 LOEUF : 1.88
Location : 29,049,976 - 29,064,047

ENSG00000260570
Size : 6,588 bases

Location : 28,841,933 - 28,848,521

ENSG00000260367
Size : 4,862 bases

Location : 28,985,283 - 28,990,145

ENSG00000278528
Size : 3,710 bases

Location : 28,785,145 - 28,788,855

ENSG00000240634
Size : 693 bases

Location : 28,825,301 - 28,825,994

ENSG00000260796
Size : 1,463 bases

Location : 28,831,891 - 28,833,354

ENSG00000275807
Size : 1,538 bases

Location : 28,833,752 - 28,835,290

ENSG00000261766
Size : 1,174 bases

Location : 28,873,487 - 28,874,661

ATP2A1-AS1
Size : 2,000 bases

Location : 28,889,259 - 28,891,259

ENSG00000261552
Size : 1,638 bases

Location : 29,000,461 - 29,002,099

NOVEL
Size : 103 bases

Location : 28,797,731 - 28,797,834

KNOWN
Size : 88 bases

Location : 28,855,240 - 28,855,328

NOVEL
Size : 127 bases

Location : 28,892,801 - 28,892,928

KNOWN
Size : 78 bases

Location : 28,969,904 - 28,969,982

34 ClinGen CNV overlap(s) (>= 70% only)

0 Benign CNV 0 Likely benign CNV 0 Uncertain CNV 2 Likely pathogenic CNV 31 Pathogenic CNV

#1 Pathogenic (16p11.2)
Location : 28,802,396 - 29,051,191 | Size : 248,795 bases

Score : 1

Mean Coverage : 95 %

#2 Pathogenic (16p11.2)
Location : 28,763,833 - 29,051,191 | Size : 287,358 bases

Score : 0

Mean Coverage : 94 %

#3 Pathogenic (16p11.2)
Location : 28,763,834 - 29,051,191 | Size : 287,357 bases

Score : 1

Mean Coverage : 94 %

#4 Pathogenic (nssv13644823)
Location : 28,763,833 - 29,043,863 | Size : 280,030 bases

Score : 0

Mean Coverage : 93 %

#5 Pathogenic (16p11.2)
Location : 28,747,519 - 29,051,191 | Size : 303,672 bases

Score : 1

Mean Coverage : 92 %

#6 Pathogenic (16p11.2)
Location : 28,819,027 - 29,051,191 | Size : 232,164 bases

Score : 0

Mean Coverage : 92 %

#7 Pathogenic (nssv3397222)
Location : 28,819,027 - 29,051,191 | Size : 232,164 bases

Score : 0

Mean Coverage : 92 %

#8 Pathogenic (nssv13652140)
Location : 28,819,027 - 29,043,972 | Size : 224,945 bases

Score : 0

Mean Coverage : 90 %

#9 Pathogenic (nssv1609384)
Location : 28,820,742 - 29,044,776 | Size : 224,034 bases

Score : 0

Mean Coverage : 90 %

#10 Pathogenic (nssv1610312)
Location : 28,824,793 - 29,044,776 | Size : 219,983 bases

Score : 0

Mean Coverage : 89 %

#11 Pathogenic (nssv1604382)
Location : 28,824,793 - 29,043,960 | Size : 219,167 bases

Score : 0

Mean Coverage : 89 %

#12 Pathogenic (16p11.2)
Location : 28,825,604 - 29,043,450 | Size : 217,846 bases

Score : 1

Mean Coverage : 89 %

#13 Pathogenic (16p11.2)
Location : 28,826,161 - 29,043,960 | Size : 217,799 bases

Score : 1

Mean Coverage : 89 %

#14 Pathogenic (nssv1609601)
Location : 28,733,738 - 29,044,776 | Size : 311,038 bases

Score : 0

Mean Coverage : 88 %

#15 Pathogenic (16p11.2)
Location : 28,734,570 - 29,043,450 | Size : 308,880 bases

Score : 1
Phenotype : Distal 16p11.2 microdeletion syndrome

Mean Coverage : 88 %

#16 Pathogenic/Likely pathogenic (nssv13642995)
Location : 28,826,161 - 29,043,901 | Size : 217,740 bases

Score : 0

Mean Coverage : 88 %

#17 Pathogenic (nssv3396771)
Location : 28,708,172 - 29,051,191 | Size : 343,019 bases

Score : 0

Mean Coverage : 86 %

#18 Pathogenic (nssv577891)
Location : 28,721,798 - 29,037,107 | Size : 315,309 bases

Score : 1

Mean Coverage : 85 %

#19 Pathogenic (Single allele)
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Score : 1
Phenotype : Proximal 16p11.2 microdeletion syndrome

Mean Coverage : 85 %

#20 Pathogenic (nssv578114)
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Score : 1

Mean Coverage : 85 %

#21 Pathogenic (16p11.2)
Location : 28,837,904 - 29,088,624 | Size : 250,720 bases

Score : 0

Mean Coverage : 85 %

#22 Pathogenic (16p11.2)
Location : 28,689,084 - 29,051,191 | Size : 362,107 bases

Score : 0
Phenotype : Distal 16p11.2 microdeletion syndrome

Mean Coverage : 83 %

#23 Pathogenic (16p11.2)
Location : 28,689,084 - 29,051,191 | Size : 362,107 bases

Score : 0

Mean Coverage : 83 %

#24 Pathogenic (nssv1610483)
Location : 28,689,084 - 29,051,191 | Size : 362,107 bases

Score : 0

Mean Coverage : 83 %

#25 Likely pathogenic (nssv1415448)
Location : 28,824,793 - 29,133,735 | Size : 308,942 bases

Score : 0

Mean Coverage : 81 %

#26 Pathogenic (nssv1603731)
Location : 28,843,753 - 29,031,071 | Size : 187,318 bases

Score : 0

Mean Coverage : 81 %

#27 Pathogenic (nssv578225)
Location : 28,854,628 - 29,037,107 | Size : 182,479 bases

Score : 1

Mean Coverage : 80 %

#28 Pathogenic (nssv1415380)
Location : 28,861,530 - 29,043,960 | Size : 182,430 bases

Score : 0

Mean Coverage : 80 %

#29 Pathogenic (16p11.2)
Location : 28,784,626 - 29,230,353 | Size : 445,727 bases

Score : 1
Phenotype : Distal 16p11.2 microdeletion syndrome

Mean Coverage : 76 %

#30 Pathogenic (16p11.2)
Location : 28,819,027 - 28,988,225 | Size : 169,198 bases

Score : 0

Mean Coverage : 76 %

#31 Pathogenic (16p11.2)
Location : 28,861,530 - 29,031,059 | Size : 169,529 bases

Score : 1
Phenotype : Macular dystrophy,Intellectual disability,moderate

Mean Coverage : 76 %

#32 Pathogenic (nssv707120)
Location : 28,861,530 - 29,031,059 | Size : 169,529 bases

Score : 0

Mean Coverage : 76 %

#33 Likely pathogenic (Single allele)
Location : 28,668,058 - 29,001,338 | Size : 333,280 bases

Score : 1
Phenotype : Proximal 16p11.2 microdeletion syndrome

Mean Coverage : 71 %

#34 Pathogenic (g.)
Location : 28,854,295 - 29,001,333 | Size : 147,038 bases

Score : 1
Phenotype : Brody myopathy

Mean Coverage : 70 %

86 Decipher CNV overlap(s) (>= 70% only)

0 Benign CNV 43 Unknown CNV 10 Uncertain CNV 33 Pathogenic CNV

#1 : pathogenic
Location : 28,796,367 - 29,076,269 | Size : 279,902 bases

Patient Id : 331026
Gender : Inconnu
Phenotype : Global developmental delay

Mean Coverage : 95 %

#2 : pathogenic
Location : 28,796,367 - 29,076,269 | Size : 279,902 bases

Patient Id : 331703
Gender : Inconnu
Phenotype : Autism, Obesity, Hypercholesterolemia, Autism, Obesity, Hypercholesterolemia

Mean Coverage : 95 %

#3 : pathogenic
Location : 28,748,615 - 29,051,191 | Size : 302,576 bases

Patient Id : 376144
Gender : Inconnu
Phenotype : Intellectual disability, mild, Laryngomalacia, Intellectual disability, mild, Laryngomalacia

Mean Coverage : 92 %

#4 : unknown
Location : 28,819,027 - 29,051,191 | Size : 232,164 bases

Patient Id : 268970
Gender : Inconnu

Mean Coverage : 92 %

#5 : pathogenic
Location : 28,824,856 - 29,051,191 | Size : 226,335 bases

Patient Id : 353972
Gender : Inconnu
Phenotype : Global developmental delay

Mean Coverage : 90 %

#6 : unknown
Location : 28,823,914 - 29,043,863 | Size : 219,949 bases

Patient Id : 256834
Gender : Inconnu
Phenotype : Acanthosis nigricans, Obesity

Mean Coverage : 89 %

#7 : unknown
Location : 28,824,793 - 29,044,776 | Size : 219,983 bases

Patient Id : 265791
Gender : Inconnu

Mean Coverage : 89 %

#8 : unknown
Location : 28,824,793 - 29,044,776 | Size : 219,983 bases

Patient Id : 266893
Gender : Inconnu

Mean Coverage : 89 %

#9 : unknown
Location : 28,824,793 - 29,044,776 | Size : 219,983 bases

Patient Id : 267633
Gender : Inconnu

Mean Coverage : 89 %

#10 : unknown
Location : 28,824,793 - 29,044,716 | Size : 219,923 bases

Patient Id : 249980
Gender : Inconnu
Phenotype : Narrow palate, Epicanthus, Long philtrum, Abnormality of the outer ear, Strabismus, Periorbital fullness, Hyperactivity, Intellectual disability, Seizure, Macrodontia, Preauricular pit

Mean Coverage : 89 %

#11 : uncertain
Location : 28,824,777 - 29,039,612 | Size : 214,835 bases

Patient Id : 288223
Gender : Inconnu
Phenotype : Autism, Obesity

Mean Coverage : 88 %

#12 : uncertain
Location : 28,824,777 - 29,039,612 | Size : 214,835 bases

Patient Id : 289170
Gender : Inconnu
Phenotype : Intrauterine growth retardation, Anal atresia

Mean Coverage : 88 %

#13 : uncertain
Location : 28,824,777 - 29,039,612 | Size : 214,835 bases

Patient Id : 289489
Gender : Inconnu
Phenotype : Behavioral abnormality, Intellectual disability

Mean Coverage : 88 %

#14 : uncertain
Location : 28,824,777 - 29,039,612 | Size : 214,835 bases

Patient Id : 290435
Gender : Inconnu
Phenotype : Seizure, Schizophrenia

Mean Coverage : 88 %

#15 : pathogenic
Location : 28,824,777 - 29,039,612 | Size : 214,835 bases

Patient Id : 331214
Gender : Inconnu
Phenotype : Global developmental delay

Mean Coverage : 88 %

#16 : pathogenic
Location : 28,824,777 - 29,039,612 | Size : 214,835 bases

Patient Id : 331402
Gender : Inconnu
Phenotype : Autism, Intellectual disability

Mean Coverage : 88 %

#17 : pathogenic
Location : 28,824,777 - 29,039,612 | Size : 214,835 bases

Patient Id : 331410
Gender : Inconnu
Phenotype : Global developmental delay

Mean Coverage : 88 %

#18 : unknown
Location : 28,824,777 - 29,084,776 | Size : 259,999 bases

Patient Id : 251690
Gender : Inconnu
Phenotype : Intellectual disability, Intellectual disability, Intellectual disability

Mean Coverage : 88 %

#19 : pathogenic
Location : 28,824,793 - 29,042,059 | Size : 217,266 bases

Patient Id : 318160
Gender : Inconnu

Mean Coverage : 88 %

#20 : pathogenic
Location : 28,824,793 - 29,042,059 | Size : 217,266 bases

Patient Id : 358409
Gender : Inconnu

Mean Coverage : 88 %

#21 : unknown
Location : 28,824,793 - 29,042,118 | Size : 217,325 bases

Patient Id : 267549
Gender : Inconnu
Phenotype : Abnormality of the face, Strabismus, Intellectual disability

Mean Coverage : 88 %

#22 : unknown
Location : 28,824,793 - 29,042,118 | Size : 217,325 bases

Patient Id : 277574
Gender : Inconnu
Phenotype : Autistic behavior, Increased body weight, Moderate global developmental delay, Proportionate tall stature, Autistic behavior, Increased body weight, Moderate global developmental delay, Proportionate tall stature, Autistic behavior, Increased body weight, Moderate global developmental delay, Proportionate tall stature

Mean Coverage : 88 %

#23 : pathogenic
Location : 28,824,793 - 29,042,118 | Size : 217,325 bases

Patient Id : 339899
Gender : Inconnu
Phenotype : Intellectual disability, mild, Obesity

Mean Coverage : 88 %

#24 : uncertain
Location : 28,824,793 - 29,042,118 | Size : 217,325 bases

Patient Id : 368772
Gender : Inconnu
Phenotype : Intellectual disability

Mean Coverage : 88 %

#25 : pathogenic
Location : 28,824,801 - 29,040,571 | Size : 215,770 bases

Patient Id : 411578
Gender : Inconnu
Phenotype : Strabismus, Global developmental delay, Generalized hypotonia, Obesity, Short foot, Polyphagia, Genu varum, Small hand, Strabismus, Global developmental delay, Generalized hypotonia, Obesity, Short foot, Polyphagia, Genu varum, Small hand

Mean Coverage : 88 %

#26 : pathogenic
Location : 28,825,604 - 29,042,014 | Size : 216,410 bases

Patient Id : 394779
Gender : Inconnu
Phenotype : Intellectual disability, Hypotonia

Mean Coverage : 88 %

#27 : pathogenic
Location : 28,833,435 - 29,046,284 | Size : 212,849 bases

Patient Id : 282629
Gender : Inconnu
Phenotype : Short philtrum, Posteriorly rotated ears, Anteverted nares, Strabismus, Hypotelorism, Aggressive behavior, Anxiety, Delayed speech and language development, Obesity, Frontal bossing, Gastroesophageal reflux, Secondary microcephaly, Attention deficit hyperactivity disorder

Mean Coverage : 87 %

#28 : pathogenic
Location : 28,833,435 - 29,046,284 | Size : 212,849 bases

Patient Id : 285165
Gender : Inconnu
Phenotype : Depression, Obesity

Mean Coverage : 87 %

#29 : unknown
Location : 28,823,913 - 29,103,019 | Size : 279,106 bases

Patient Id : 277713
Gender : Inconnu
Phenotype : Abnormality of the nervous system, Seizure, Overgrowth, Intellectual disability, borderline, Abnormal CNS myelination

Mean Coverage : 86 %

#30 : unknown
Location : 28,824,793 - 29,031,059 | Size : 206,266 bases

Patient Id : 270628
Gender : Inconnu
Phenotype : Tall stature, Intellectual disability, Obesity

Mean Coverage : 86 %

#31 : uncertain
Location : 28,824,793 - 29,031,059 | Size : 206,266 bases

Patient Id : 377611
Gender : Inconnu
Phenotype : Intellectual disability, Global developmental delay, Intellectual disability, Global developmental delay

Mean Coverage : 86 %

#32 : pathogenic
Location : 28,824,793 - 29,031,059 | Size : 206,266 bases

Patient Id : 383006
Gender : Inconnu

Mean Coverage : 86 %

#33 : unknown
Location : 28,837,249 - 29,042,259 | Size : 205,010 bases

Patient Id : 249363
Gender : Inconnu
Phenotype : Preauricular skin tag, Ptosis, Delayed speech and language development, Intellectual disability, Hypotonia, Feeding difficulties in infancy

Mean Coverage : 86 %

#34 : unknown
Location : 28,837,389 - 29,042,178 | Size : 204,789 bases

Patient Id : 277182
Gender : Inconnu
Phenotype : Ptosis, Epicanthus inversus, Blepharophimosis, Global developmental delay

Mean Coverage : 85 %

#35 : pathogenic
Location : 28,837,389 - 29,042,178 | Size : 204,789 bases

Patient Id : 300646
Gender : Inconnu
Phenotype : Stereotypy, Global developmental delay, Absent speech

Mean Coverage : 85 %

#36 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 250064
Gender : Inconnu
Phenotype : Abnormality of the face, Intellectual disability

Mean Coverage : 85 %

#37 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 251199
Gender : Inconnu
Phenotype : Intellectual disability, Obesity

Mean Coverage : 85 %

#38 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 253267
Gender : Inconnu
Phenotype : Microcephaly, Intellectual disability, Nasal speech, Microcephaly, Intellectual disability, Nasal speech, Microcephaly, Intellectual disability, Nasal speech

Mean Coverage : 85 %

#39 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 293080
Gender : Inconnu
Phenotype : Obesity, Cognitive impairment, Obesity, Cognitive impairment, Obesity, Cognitive impairment

Mean Coverage : 85 %

#40 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 301697
Gender : Inconnu
Phenotype : Autism, Cognitive impairment, Autism, Cognitive impairment

Mean Coverage : 85 %

#41 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 303558
Gender : Inconnu

Mean Coverage : 85 %

#42 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 276681
Gender : Inconnu
Phenotype : Global developmental delay

Mean Coverage : 85 %

#43 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 278593
Gender : Inconnu
Phenotype : Intellectual disability, moderate

Mean Coverage : 85 %

#44 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 284131
Gender : Inconnu
Phenotype : Autistic behavior

Mean Coverage : 85 %

#45 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 287726
Gender : Inconnu
Phenotype : Global developmental delay, Global developmental delay

Mean Coverage : 85 %

#46 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 292839
Gender : Inconnu
Phenotype : Cognitive impairment, Cognitive impairment, Cognitive impairment

Mean Coverage : 85 %

#47 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 254152
Gender : Inconnu

Mean Coverage : 85 %

#48 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 255967
Gender : Inconnu

Mean Coverage : 85 %

#49 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 257153
Gender : Inconnu

Mean Coverage : 85 %

#50 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 257155
Gender : Inconnu

Mean Coverage : 85 %

#51 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 258408
Gender : Inconnu

Mean Coverage : 85 %

#52 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 263127
Gender : Inconnu

Mean Coverage : 85 %

#53 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 267900
Gender : Inconnu

Mean Coverage : 85 %

#54 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 269994
Gender : Inconnu

Mean Coverage : 85 %

#55 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 272661
Gender : Inconnu
Phenotype : Intellectual disability

Mean Coverage : 85 %

#56 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 253296
Gender : Inconnu

Mean Coverage : 85 %

#57 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 253362
Gender : Inconnu

Mean Coverage : 85 %

#58 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 253363
Gender : Inconnu

Mean Coverage : 85 %

#59 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 253364
Gender : Inconnu

Mean Coverage : 85 %

#60 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 253365
Gender : Inconnu

Mean Coverage : 85 %

#61 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 325628
Gender : Inconnu
Phenotype : Intellectual disability, Obesity

Mean Coverage : 85 %

#62 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 326517
Gender : Inconnu
Phenotype : Specific learning disability, HP:0011398

Mean Coverage : 85 %

#63 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 331840
Gender : Inconnu
Phenotype : Intrauterine growth retardation, Intrauterine growth retardation

Mean Coverage : 85 %

#64 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 339285
Gender : Inconnu
Phenotype : Growth delay, Type I diabetes mellitus

Mean Coverage : 85 %

#65 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 339819
Gender : Inconnu
Phenotype : Global developmental delay, Obesity

Mean Coverage : 85 %

#66 : pathogenic
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 340588
Gender : Inconnu
Phenotype : Overgrowth, Intellectual disability, severe

Mean Coverage : 85 %

#67 : unknown
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

Patient Id : 341016
Gender : Inconnu

Mean Coverage : 85 %

#68 : pathogenic
Location : 28,708,185 - 29,088,624 | Size : 380,439 bases

Patient Id : 381680
Gender : Inconnu
Phenotype : Intrauterine growth retardation

Mean Coverage : 84 %

#69 : unknown
Location : 28,689,084 - 29,051,191 | Size : 362,107 bases

Patient Id : 283459
Gender : Inconnu
Phenotype : Autistic behavior, Autistic behavior, Autistic behavior

Mean Coverage : 83 %

#70 : pathogenic
Location : 28,689,084 - 29,051,191 | Size : 362,107 bases

Patient Id : 314116
Gender : Inconnu
Phenotype : Autism, Aggressive behavior, Generalized hypotonia, Severe global developmental delay

Mean Coverage : 83 %

#71 : unknown
Location : 28,689,084 - 29,043,863 | Size : 354,779 bases

Patient Id : 283458
Gender : Inconnu
Phenotype : Autistic behavior, Autistic behavior, Autistic behavior

Mean Coverage : 82 %

#72 : unknown
Location : 28,843,572 - 29,031,200 | Size : 187,628 bases

Patient Id : 278240
Gender : Inconnu
Phenotype : Intellectual disability, Intellectual disability

Mean Coverage : 81 %

#73 : pathogenic
Location : 28,843,753 - 29,031,071 | Size : 187,318 bases

Patient Id : 356980
Gender : Inconnu
Phenotype : Delayed speech and language development, Global developmental delay, Motor delay, Ischemic stroke, Left hemiplegia

Mean Coverage : 81 %

#74 : unknown
Location : 28,843,801 - 29,031,029 | Size : 187,228 bases

Patient Id : 255706
Gender : Inconnu

Mean Coverage : 81 %

#75 : unknown
Location : 28,843,801 - 29,031,029 | Size : 187,228 bases

Patient Id : 277613
Gender : Inconnu

Mean Coverage : 81 %

#76 : unknown
Location : 28,843,801 - 29,031,029 | Size : 187,228 bases

Patient Id : 280343
Gender : Inconnu

Mean Coverage : 81 %

#77 : unknown
Location : 28,843,801 - 29,031,029 | Size : 187,228 bases

Patient Id : 285452
Gender : Inconnu

Mean Coverage : 81 %

#78 : uncertain
Location : 28,843,801 - 29,031,029 | Size : 187,228 bases

Patient Id : 286534
Gender : Inconnu

Mean Coverage : 81 %

#79 : uncertain
Location : 28,843,801 - 29,031,029 | Size : 187,228 bases

Patient Id : 287625
Gender : Inconnu

Mean Coverage : 81 %

#80 : uncertain
Location : 28,843,801 - 29,031,029 | Size : 187,228 bases

Patient Id : 304096
Gender : Inconnu
Phenotype : Autism

Mean Coverage : 81 %

#81 : unknown
Location : 28,843,801 - 29,031,029 | Size : 187,228 bases

Patient Id : 314961
Gender : Inconnu

Mean Coverage : 81 %

#82 : unknown
Location : 28,843,802 - 29,031,030 | Size : 187,228 bases

Patient Id : 260398
Gender : Inconnu

Mean Coverage : 81 %

#83 : uncertain
Location : 28,843,802 - 29,031,030 | Size : 187,228 bases

Patient Id : 301347
Gender : Inconnu
Phenotype : Autistic behavior, Seizure, Abnormal fear\/anxiety\-related behavior, Autistic behavior, Seizure, Abnormal fear\/anxiety\-related behavior

Mean Coverage : 81 %

#84 : pathogenic
Location : 28,796,367 - 29,182,200 | Size : 385,833 bases

Patient Id : 305256
Gender : Inconnu

Mean Coverage : 80 %

#85 : unknown
Location : 28,861,559 - 29,031,029 | Size : 169,470 bases

Patient Id : 268487
Gender : Inconnu
Phenotype : Strabismus, Aggressive behavior, Intellectual disability, Truncal obesity, Strabismus, Aggressive behavior, Intellectual disability, Truncal obesity

Mean Coverage : 76 %

#86 : pathogenic
Location : 28,617,569 - 29,097,626 | Size : 480,057 bases

Patient Id : 270510
Gender : Inconnu
Phenotype : Shawl scrotum, Long face, Myoclonus, Plagiocephaly, Polyhydramnios, Ventriculomegaly, Generalized\-onset seizure, EEG abnormality, EEG with polyspike wave complexes, Focal myoclonic seizure, Severe global developmental delay, Shawl scrotum, Long face, Myoclonus, Plagiocephaly, Polyhydramnios, Ventriculomegaly, Generalized\-onset seizure, EEG abnormality, EEG with polyspike wave complexes, Focal myoclonic seizure, Severe global developmental delay

Mean Coverage : 73 %

0 Gene(s) in SFARI Database

0 DGV-Gold overlap(s) (>= 50% only)

4 DGV overlap(s) (>= 50% only)

DGV #1
Location : 28,820,500 - 29,051,500 | Size : 231,000 bases

Mean Coverage : 91 %

DGV #2
Location : 28,826,049 - 29,043,450 | Size : 217,401 bases

Mean Coverage : 88 %

DGV #3
Location : 28,835,495 - 29,043,450 | Size : 207,955 bases

Mean Coverage : 86 %

DGV #4
Location : 28,837,515 - 29,043,450 | Size : 205,935 bases

Mean Coverage : 86 %

5 Patient cases (>= 70% only)

28,833,294 - 29,037,247
Size : 203,953 bases
3 Reports

Mean Coverage : 85 %

28,833,435 - 29,008,513
Size : 175,078 bases
1 Reports

Mean Coverage : 78 %

28,833,435 - 29,046,284
Size : 212,849 bases
15 Reports

Mean Coverage : 87 %

28,833,494 - 29,037,108
Size : 203,614 bases
6 Reports

Mean Coverage : 85 %

28,833,494 - 29,037,107
Size : 203,613 bases
1 Reports

Mean Coverage : 85 %

1 Controls (>= 70% only)

nssv855478
Location : 28835494 - 29043450 | Size : 207956 bases

Mean Coverage : 86 %

6 Gene(s) in PanelApp Database

SH2B1 PanelApp Whole gene - Size : 27,612 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Medium	Severe early-onset obesity	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- obesity - Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994	- Expert Review Amber - Expert list

ATP2A1 PanelApp Whole gene - Size : 26,061 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	Skeletal Muscle Channelopathies	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy 601003	- Expert Review Green - Expert list
Low	Other rare neuromuscular disorders	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, 601003 - Brody Myopathy	- Expert Review Red
Low	Paroxysmal central nervous system disorders	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, 601003	- Expert Review Red - NHS GMS - London North GLH - Wessex and West Midlands GLH
Low	Arthrogryposis	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	- Brody Myopathy - Brody myopathy, 601003	- Expert Review Red - Illumina TruGenome Clinical Sequencing Services - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen
Low	Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, OMIM:601003	- Expert Review Red - Radboud University Medical Center, Nijmegen - Emory Genetics Laboratory - Illumina TruGenome Clinical Sequencing Services
High	Skeletal muscle channelopathy	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy OMIM:601003	- NHS GMS - Expert Review Green - London North GLH
Low	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, 601003	- Expert Review Red - NHS GMS - Yorkshire and North East GLH - Expert Review
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, 601003	- Next Generation Children Project - Expert Review Green - Expert list
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Brody myopathy, 601003	- Next Generation Children Project - Expert Review Green - Expert list

ATXN2L PanelApp Whole gene - Size : 14,238 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
Medium	Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	- Intellectual disability - Macrocephaly	- Expert Review Amber - Literature

CD19 PanelApp Whole gene - Size : 7,377 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	COVID-19 research	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency, common variable, 3 - Isolated IgG subclass deficiency - Recurrent infections, may have glomerulonephritis - Immunodeficiency, common variable, 3 613493 - Common variable immunodeficiency disorders (CVID) - Predominantly Antibody Deficiencies - hypogammaglobulinemia	- IUIS Classification February 2018 - A- or hypo-gammaglobulinaemia v1.25 - London North GLH - NHS GMS - GRID V2.0 - Victorian Clinical Genetics Services - North West GLH - ESID Registry 20171117 - Expert Review Green - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 - A- or hypo-gammaglobulinaemia v1.25
High	Primary immunodeficiency or monogenic inflammatory bowel disease	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency, common variable, 3 613493 - hypogammaglobulinemia - Immunodeficiency, common variable, 3 - Common variable immunodeficiency disorders (CVID) - Isolated IgG subclass deficiency - Recurrent infections, may have glomerulonephritis - Predominantly Antibody Deficiencies	- NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 - A- or hypo-gammaglobulinaemia v1.25
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency, common variable, 3, 613493	- Next Generation Children Project - Expert Review Green - Expert list
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency, common variable, 3, 613493	- Next Generation Children Project - Expert Review Green - Expert list
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency, common variable, 3, 613493	- Next Generation Children Project - Expert Review Green - Expert list

LAT PanelApp Whole gene - Size : 5,958 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	COVID-19 research	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiencies affecting cellular and humoral immunity - Immunodeficiency 52, 617514 - Adenopathy, splenomegaly, recurrent infections, autoimmunity	- IUIS Classification February 2018 - SCID v1.6 - A- or hypo-gammaglobulinaemia v1.25 - London North GLH - NHS GMS - North West GLH - Combined B and T cell defect v1.12 - Expert Review Green - NHS GMS - North West GLH - London North GLH - Expert Review Green - IUIS Classification February 2018 - SCID v1.6 - Combined B and T cell defect v1.12 - A- or hypo-gammaglobulinaemia v1.25
Medium	Inherited bleeding disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 52, 617514	- Expert Review Amber - Other
High	Primary immunodeficiency or monogenic inflammatory bowel disease	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 52, 617514 - Adenopathy, splenomegaly, recurrent infections, autoimmunity - Immunodeficiencies affecting cellular and humoral immunity	- Expert Review Green - Other - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - SCID v1.6 - Combined B and T cell defect v1.12 - A- or hypo-gammaglobulinaemia v1.25
Medium	Cytopenias and congenital anaemias	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 52, 617514	- Expert Review Amber - Other
Medium	Cytopenia - NOT Fanconi anaemia	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 52, 617514	- North West GLH - NHS GMS - Expert Review Amber - Wessex and West Midlands GLH
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Immunodeficiency 52, 617514	- Next Generation Children Project - Expert Review Green - Expert list

TUFM PanelApp Whole gene - Size : 3,937 bases

Confidence	Disease	Inheritance	Phenotype	Evidence
High	White matter disorders and cerebral calcification - narrow panel	BIALLELIC, autosomal or pseudoautosomal	- Mitochondrial Leukoencephalopathy - Combined oxidative phosphorylation deficiency 4, OMIM:610678	- Expert Review Green - NHS GMS
Medium	Inherited white matter disorders	BIALLELIC, autosomal or pseudoautosomal	- Mitochondrial Leukoencephalopathy	- Expert Review Amber - Expert list
High	Undiagnosed metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) - Combined oxidative phosphorylation deficiency 4 610678	- Expert Review Green - Literature
High	Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) - Multiple respiratory chain complex deficiencies (disorders of protein synthesis) - Combined oxidative phosphorylation deficiency 4 610678 - Combined oxidative phosphorylation deficiency 4, 610678	- Expert Review Green - Expert Review Green - London North GLH - NHS GMS - Victorian Clinical Genetics Services
High	Possible mitochondrial disorder - nuclear genes	BIALLELIC, autosomal or pseudoautosomal	- Combined oxidative phosphorylation deficiency 4, 610678	- Expert Review Green - NHS GMS
Medium	Fetal anomalies	BIALLELIC, autosomal or pseudoautosomal	- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	- Expert Review Amber - PAGE DD-Gene2Phenotype
High	DDG2P	BIALLELIC, autosomal or pseudoautosomal	- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678	- Expert Review Green - DD-Gene2Phenotype
Low	Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	- Combined oxidative phosphorylation deficiency 4, 610678	- Expert Review Red
High	Mitochondrial disorders	BIALLELIC, autosomal or pseudoautosomal	- Combined oxidative phosphorylation deficiency 4 610678	- Expert Review Green - Victorian Clinical Genetics Services - Radboud University Medical Center, Nijmegen - Expert list - Expert
Low	Childhood onset dystonia, chorea or related movement disorder			- Expert Review Red - London North GLH
High	Severe Paediatric Disorders	BIALLELIC, autosomal or pseudoautosomal	- Combined oxidative phosphorylation deficiency 4, 610678	- Next Generation Children Project - Expert Review Green - Expert list

ClassifyCNV ACMG Score

Pathogenic

ClassifyCNV ACMG Criteria

2A
+ 1

Complete overlap of an established HI gene/genomic region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.

AnnotSV Score

Pathogenic

AnnotSV ACMG Criteria

2A
+ 1

Complete overlap of an established HI gene/genomic region.

5B
-0.45

Patient with specific, well-defined phenotype and no family history. CNV is inherited from an apparently unaffected parent.

5D
+ 0.45

CNV segregates with a consistent phenotype observed in the patient’s family.

Length (hg19) : 274,394 bases - Length (hg38) : 274,394 bases

CNV-Hub AChro-PucePIEV

AChro-Puce Criteria taken into account 1

1

2 Major

2 Major

4 Major

4 Major

4 Major

4 Minor

4 Minor

ISV 2

XCNV 3

ClassifyCNV ACMG 4

AnnotSV ACMG 5

ACMG criteria

ClassifyCNV

2A + 1

5B -0.45

5D + 0.45

AnnotSV

2A + 1

5B -0.45

5D + 0.45

Diseases :

ClinGen

Decipher

DGV-Gold

0

0

DGV

4

4

Coe & Al study 6

5

1

Genes with pHaplo > 0.55 7

2

Genes with pTriplo > 0.68 7

4

Genes in SFARI

0

Genes in OMIM

9

Sources and references

1 Microdeletion and microduplication syndromes from litterature (>= 70% only)

16p11.2 Location : 28,822,635 - 29,046,499 | Size : 223,864 bases

9 OMIM Gene overlap(s)

Download genes as .csv

RABEP2 NM_024816.3 Whole gene - Size : 32,105 bases

Database :

SH2B1 NM_001387430.1 Whole gene - Size : 27,612 bases

Disease : Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Source : Orphanet

Database :

ATP2A1 NM_004320.6 Whole gene - Size : 26,061 bases

Disease : Brody myopathy

Source : Orphanet

Database :

NFATC2IP NM_032815.4 Whole gene - Size : 16,285 bases

Database :

ATXN2L NM_007245.4 Whole gene - Size : 14,238 bases

Database :

SPNS1 NM_032038.3 Whole gene - Size : 10,327 bases

Database :

CD19 NM_001770.6 Whole gene - Size : 7,377 bases

Disease : Common variable immunodeficiency

Source : Orphanet

Database :

LAT NM_001014987.2 Whole gene - Size : 5,958 bases

Disease : Severe combined immunodeficiency due to LAT deficiency

Source : Orphanet

Database :

TUFM NM_003321.5 Whole gene - Size : 3,937 bases

Disease : Combined oxidative phosphorylation defect type 4

Source : Orphanet

Database :

17 Non-OMIM Gene overlap(s)

ENSG00000261067Size : 15,971 bases

ENSG00000251417Size : 15,085 bases

CNV-Hub AChro-Puce
PIEV

AChro-Puce Criteria taken into account¹

ISV²

XCNV³

ClassifyCNV ACMG⁴

AnnotSV ACMG⁵

2A
+ 1

5B
-0.45

5D
+ 0.45

2A
+ 1

5B
-0.45

5D
+ 0.45

Coe & Al study⁶

Genes with pHaplo > 0.55⁷

Genes with pTriplo > 0.68⁷

16p11.2
Location : 28,822,635 - 29,046,499 | Size : 223,864 bases

ENSG00000261067
Size : 15,971 bases

ENSG00000251417
Size : 15,085 bases

NFATC2IP-AS1
Size : 14,067 bases

NPIPB10P
Size : 14,071 bases

ENSG00000260570
Size : 6,588 bases

ENSG00000260367
Size : 4,862 bases

ENSG00000278528
Size : 3,710 bases

ENSG00000240634
Size : 693 bases

ENSG00000260796
Size : 1,463 bases

ENSG00000275807
Size : 1,538 bases

ENSG00000261766
Size : 1,174 bases

ATP2A1-AS1
Size : 2,000 bases

ENSG00000261552
Size : 1,638 bases

NOVEL
Size : 103 bases

KNOWN
Size : 88 bases

NOVEL
Size : 127 bases

KNOWN
Size : 78 bases

#1 Pathogenic (16p11.2)
Location : 28,802,396 - 29,051,191 | Size : 248,795 bases

#2 Pathogenic (16p11.2)
Location : 28,763,833 - 29,051,191 | Size : 287,358 bases

#3 Pathogenic (16p11.2)
Location : 28,763,834 - 29,051,191 | Size : 287,357 bases

#4 Pathogenic (nssv13644823)
Location : 28,763,833 - 29,043,863 | Size : 280,030 bases

#5 Pathogenic (16p11.2)
Location : 28,747,519 - 29,051,191 | Size : 303,672 bases

#6 Pathogenic (16p11.2)
Location : 28,819,027 - 29,051,191 | Size : 232,164 bases

#7 Pathogenic (nssv3397222)
Location : 28,819,027 - 29,051,191 | Size : 232,164 bases

#8 Pathogenic (nssv13652140)
Location : 28,819,027 - 29,043,972 | Size : 224,945 bases

#9 Pathogenic (nssv1609384)
Location : 28,820,742 - 29,044,776 | Size : 224,034 bases

#10 Pathogenic (nssv1610312)
Location : 28,824,793 - 29,044,776 | Size : 219,983 bases

#11 Pathogenic (nssv1604382)
Location : 28,824,793 - 29,043,960 | Size : 219,167 bases

#12 Pathogenic (16p11.2)
Location : 28,825,604 - 29,043,450 | Size : 217,846 bases

#13 Pathogenic (16p11.2)
Location : 28,826,161 - 29,043,960 | Size : 217,799 bases

#14 Pathogenic (nssv1609601)
Location : 28,733,738 - 29,044,776 | Size : 311,038 bases

#15 Pathogenic (16p11.2)
Location : 28,734,570 - 29,043,450 | Size : 308,880 bases

#16 Pathogenic/Likely pathogenic (nssv13642995)
Location : 28,826,161 - 29,043,901 | Size : 217,740 bases

#17 Pathogenic (nssv3396771)
Location : 28,708,172 - 29,051,191 | Size : 343,019 bases

#18 Pathogenic (nssv577891)
Location : 28,721,798 - 29,037,107 | Size : 315,309 bases

#19 Pathogenic (Single allele)
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

#20 Pathogenic (nssv578114)
Location : 28,837,449 - 29,042,118 | Size : 204,669 bases

#21 Pathogenic (16p11.2)
Location : 28,837,904 - 29,088,624 | Size : 250,720 bases

#22 Pathogenic (16p11.2)
Location : 28,689,084 - 29,051,191 | Size : 362,107 bases

#23 Pathogenic (16p11.2)
Location : 28,689,084 - 29,051,191 | Size : 362,107 bases

#24 Pathogenic (nssv1610483)
Location : 28,689,084 - 29,051,191 | Size : 362,107 bases

#25 Likely pathogenic (nssv1415448)
Location : 28,824,793 - 29,133,735 | Size : 308,942 bases

#26 Pathogenic (nssv1603731)
Location : 28,843,753 - 29,031,071 | Size : 187,318 bases

#27 Pathogenic (nssv578225)
Location : 28,854,628 - 29,037,107 | Size : 182,479 bases

#28 Pathogenic (nssv1415380)
Location : 28,861,530 - 29,043,960 | Size : 182,430 bases

#29 Pathogenic (16p11.2)
Location : 28,784,626 - 29,230,353 | Size : 445,727 bases

#30 Pathogenic (16p11.2)
Location : 28,819,027 - 28,988,225 | Size : 169,198 bases

#31 Pathogenic (16p11.2)
Location : 28,861,530 - 29,031,059 | Size : 169,529 bases

#32 Pathogenic (nssv707120)
Location : 28,861,530 - 29,031,059 | Size : 169,529 bases

#33 Likely pathogenic (Single allele)
Location : 28,668,058 - 29,001,338 | Size : 333,280 bases

#34 Pathogenic (g.)
Location : 28,854,295 - 29,001,333 | Size : 147,038 bases

#1 : pathogenic
Location : 28,796,367 - 29,076,269 | Size : 279,902 bases

#2 : pathogenic
Location : 28,796,367 - 29,076,269 | Size : 279,902 bases

#3 : pathogenic
Location : 28,748,615 - 29,051,191 | Size : 302,576 bases

#4 : unknown
Location : 28,819,027 - 29,051,191 | Size : 232,164 bases

#5 : pathogenic
Location : 28,824,856 - 29,051,191 | Size : 226,335 bases

#6 : unknown
Location : 28,823,914 - 29,043,863 | Size : 219,949 bases

#7 : unknown
Location : 28,824,793 - 29,044,776 | Size : 219,983 bases

#8 : unknown
Location : 28,824,793 - 29,044,776 | Size : 219,983 bases

#9 : unknown
Location : 28,824,793 - 29,044,776 | Size : 219,983 bases

#10 : unknown
Location : 28,824,793 - 29,044,716 | Size : 219,923 bases

#11 : uncertain
Location : 28,824,777 - 29,039,612 | Size : 214,835 bases

#12 : uncertain
Location : 28,824,777 - 29,039,612 | Size : 214,835 bases

#13 : uncertain
Location : 28,824,777 - 29,039,612 | Size : 214,835 bases