Genomics England
GMS Panels
Panels
Genes and Entities

SMARCA5

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
OMIM: 603375
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability, postnatal microcephaly, hypotonia, failure to thrive
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 9.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability, postnatal microcephaly, hypotonia, failure to thrive