Genomics England
GMS Panels
Panels
Genes and Entities

MBD5

methyl-CpG binding domain protein 5
OMIM: 611472
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 1
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, NOT imprinted
Phenotypes
Mental Retardation, Dominant, Autosomal Dominant Mental Retardation syndrome type 1, Mental retardation, autosomal dominant 1, 156200, EHMT1-LIKE INTELLECTUAL DISABILITY