Genomics England
GMS Panels
Panels
Genes and Entities

CHD5

chromodomain helicase DNA binding protein 5
OMIM: 610771
PanelMode of inheritanceDetails
2 panels
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 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
OMIM:610771, Intellectual disability, MONDO:0001071, Epilepsy, MONDO:0005027
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Parenti-Mignot neurodevelopmental syndrome, OMIM:610771, Intellectual disability, MONDO:0001071, Epilepsy, MONDO:0005027