Genomics England
GMS Panels
Panels
Genes and Entities

SMARCC1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1
OMIM: 601732
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital hydrocephalus, Aqueductal stenosis, Septal agenesis, Corpus callosum abnormalities, {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital hydrocephalus, Aqueductal stenosis, Septal agenesis, Corpus callosum abnormalities, {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241