Adult solid tumours for rare disease
Gene: SMARCA4
SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4)
EnsemblGeneIds (GRCh38): ENSG00000127616
EnsemblGeneIds (GRCh37): ENSG00000127616
OMIM: 603254, Gene2Phenotype
SMARCA4 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000127616
EnsemblGeneIds (GRCh37): ENSG00000127616
OMIM: 603254, Gene2Phenotype
SMARCA4 is in 14 panels
1 review
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
predisposition to small cell ca ; Ovary with hypercalcemia
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- predisposition to small cell ca
- Ovary with hypercalcemia
- OMIM
- 603254
- Clinvar variants
- Variants in SMARCA4
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- CAKUT
- Adult solid tumours for rare disease
- Unexplained young onset end-stage renal disease - additional genes
- Familial rhabdoid tumours
- Sarcoma susceptibility
- Unexplained kidney failure in young people
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
History Filter Activity
5 Mar 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
19 Dec 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCA4 was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
19 Dec 2017, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)SMARCA4 was created by Ellen McDonagh