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Intellectual disability syndromic and non-syndromic

Gene: CHD2

Green List (high evidence)

CHD2 (chromodomain helicase DNA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000173575
EnsemblGeneIds (GRCh37): ENSG00000173575
OMIM: 602119, Gene2Phenotype
CHD2 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 94, MIM# 615369

Ken Lee Wan (Monash Health)

Green List (high evidence)

ID +/- ASD are common in CHD2-related neurodevelopmental disorders (PMID: 26677509).

CHD2 is a well-established gene-disease association with autosomal dominant complex neurodevelopmental disorder (https://search.clinicalgenome.org/CCID:004439).
Created: 2 Aug 2024, 12:32 a.m. | Last Modified: 2 Aug 2024, 12:32 a.m.
Panel Version: 0.6075

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex neurodevelopmental disorder MONDO:0100038

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Developmental and epileptic encephalopathy 94, MIM# 615369
OMIM
602119
Clinvar variants
Variants in CHD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHD2 were changed from Epileptic encephalopathy, childhood-onset (MIM # 615369) to Developmental and epileptic encephalopathy 94, MIM# 615369

2 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHD2 were set to

17 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd2 has been classified as Green List (High Evidence).

17 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHD2 were changed from to Epileptic encephalopathy, childhood-onset (MIM # 615369)

17 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHD2 was added gene: CHD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHD2 was set to Unknown