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
-
- 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
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