Genomics England
GMS Panels
Panels
Genes and Entities

SMARCA4

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
OMIM: 603254
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
predisposition to small cell ca, Ovary with hypercalcemia
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Rhabdoid tumor predisposition syndrome 2}, OMIM:613325, Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 4, OMIM:614609
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
COFFIN SIRIS 135900, RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325
Green
in Familial rhabdoid tumours
R-numbers: R358
Signed-off version 1.11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Rhabdoid tumor predisposition syndrome 2}, OMIM:613325, Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RHABDOID TUMOR PREDISPOSITION SYNDROME 2, COFFIN SIRIS
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 4, OMIM:614609