Childhood solid tumours cancer susceptibility
Gene: SMARCA4EnsemblGeneIds (GRCh38): ENSG00000127616
EnsemblGeneIds (GRCh37): ENSG00000127616
OMIM: 603254, Gene2Phenotype
SMARCA4 is in 14 panels
1 review
Clare Turnbull (Queen Mary University London)
Tumour suppressor.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
predisposition to small cell ca; Ovary with hypercalcemia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- predisposition to small cell ca
- Ovary with hypercalcemia
- OMIM
- 603254
- Clinvar variants
- Variants in SMARCA4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Skeletal dysplasia
- Clefting
- Childhood solid tumours cancer susceptibility
- 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
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor.
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCA4 was added to Childhood solid tumourspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)SMARCA4 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCA4 was added to Childhood solid tumourspanel. Sources: Expert list