Genomics England
GMS Panels
Panels
Genes and Entities

SMARCB1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
OMIM: 601607
PanelMode of inheritanceDetails
7 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atypical rhabdoid tumor predisposition
Green
in Childhood solid tumours
Signed-off version 5.11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atypical rhabdoid tumor predisposition, 609322
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EHMT1-like SYNDROME, RHABDOID PREDISPOSITION SYNDROME 1 609322
Green
in Embryonal tumour of possible germline origin
R-numbers: R456
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SMARCB1-related schwannomatosis, MONDO:0024517, rhabdoid tumor predisposition syndrome 1, MONDO:0012252, {Schwannomatosis-1, susceptibility to}, OMIM:162091, {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322
Green
in Familial tumours of the nervous system
R-numbers: R221
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Schwannomatosis-1, susceptibility to}, OMIM:162091, {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322, rhabdoid tumor predisposition syndrome 1, MONDO:0012252, SMARCB1-related schwannomatosis, MONDO:0024517
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RHABDOID PREDISPOSITION SYNDROME 1, ?COFFIN-SIRIS SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 3, OMIM:614608