Adult solid tumours cancer susceptibility
Gene: SMARCA4EnsemblGeneIds (GRCh38): ENSG00000127616
EnsemblGeneIds (GRCh37): ENSG00000127616
OMIM: 603254, Gene2Phenotype
SMARCA4 is in 14 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
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
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- predisposition to small cell ca
- Ovary with hypercalcemia
- OMIM
- 603254
- Clinvar variants
- Variants in SMARCA4
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Adult solid tumours for rare disease
- CAKUT
- Familial rhabdoid tumours
- Sarcoma susceptibility
- Unexplained kidney failure in young people
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SMARCA4.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor.
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCA4 was added to Adult solid tumourspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCA4 was added to Adult solid tumourspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)SMARCA4 was created by ellenmcdonagh