Genomics England
GMS Panels
Panels
Genes and Entities

CHD4

chromodomain helicase DNA binding protein 4
OMIM: 603277
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Sifrim-Hitz-Weiss syndrome, OMIM:617159
Green
in Fetal anomalies
R-numbers: R21, R412
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
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Sifrim-Hitz-Weiss syndrome OMIM:617159, Sifrim-Hitz-Weiss syndrome MONDO:0014946