Genomics England
GMS Panels
Panels
Genes and Entities

CHD4

chromodomain helicase DNA binding protein 4
OMIM: 603277
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Sifrim-Hitz-Weiss syndrome OMIM:617159, Sifrim-Hitz-Weiss syndrome MONDO:0014946
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Sifrim-Hitz-Weiss syndrome OMIM:617159, Sifrim-Hitz-Weiss syndrome MONDO:0014946