VACTERL-like phenotypes
Gene: CHD4
CHD4 (chromodomain helicase DNA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000111642
EnsemblGeneIds (GRCh37): ENSG00000111642
OMIM: 603277, Gene2Phenotype
CHD4 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000111642
EnsemblGeneIds (GRCh37): ENSG00000111642
OMIM: 603277, Gene2Phenotype
CHD4 is in 7 panels
1 review
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases, mixed phenotype relevant to this panel. Missense reported to date.Created: 18 Dec 2017, 2:54 p.m.
Combination of cardiac / skeletal / urogenital features that may present with VACTERL-like phenotype.Created: 18 Dec 2017, 2:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Sifrim-Hitz-Weiss syndrome 617159
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
- Sifrim-Hitz-Weiss syndrome 617159
- OMIM
- 603277
- Clinvar variants
- Variants in CHD4
- Penetrance
- None
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
18 Dec 2017, Gel status: 3
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 Dec 2017, Gel status: 3
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 Dec 2017, Gel status: 1
Added New Source
Helen Brittain (Genomics England Curator)CHD4 was added to VACTERL-like phenotypes panel. Sources: Literature
18 Dec 2017, Gel status: 1
Created
Helen Brittain (Genomics England Curator)CHD4 was created by Helen Brittain