Congenital Heart Defect
Gene: CHD4EnsemblGeneIds (GRCh38): ENSG00000111642
EnsemblGeneIds (GRCh37): ENSG00000111642
OMIM: 603277, Gene2Phenotype
CHD4 is in 12 panels
1 review
Polly McIntosh (Other)
OMIM 617159 Sifrim-Hitz-Weiss Syndrome (Also called CHD4 Neurodevelopmental Disorder)
31 de novo cases with Sifrim-Hitz-Weiss Syndrome PMID 31388190:
72% of patients assessed (21/29) had structural heart abnormalities inc. septal defects, tetrology of Fallot and truncus arteriosus.
Functional studies on engineered cells with CHD4 variants showed reduced ATPase activity and reduced chromatin remodeling (PMID 31388190). Mouse studies on another CHD4 variant showed ventricular hypertrabeculation in CHD4 variant mice (PMID 37254794)Created: 10 Nov 2023, 1:17 a.m. | Last Modified: 10 Nov 2023, 1:19 a.m.
Panel Version: 0.310
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental delay; intellectual disability; ophthalmological abnormalities; congenital heart defects; hypotonia; hearing impairment; cryptorchidism; macrocephaly; skeletal abnormalities; hypogonadism; short stature; hydrocephalus
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Sifrim-Hitz-Weiss syndrome (MIM#617159)
- OMIM
- 603277
- Clinvar variants
- Variants in CHD4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome (MIM#617159)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CHD4 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CHD4 was added gene: CHD4 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHD4 was set to Unknown