VACTERL-like phenotypes

Gene: CHD4

Green List (high evidence)

CHD4 (chromodomain helicase DNA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000111642
EnsemblGeneIds (GRCh37): ENSG00000111642
OMIM: 603277, Gene2Phenotype
CHD4 is in 5 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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