This Panel is marked as Internal
Tumour predisposition - adult onset
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Ovary with hypercalcemia
- predisposition to small cell ca
- OMIM
- 603254
- Clinvar variants
- Variants in SMARCA4
- Penetrance
- None
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Childhood solid tumours cancer susceptibility
- Adult solid tumours for rare disease
- Intellectual disability
- Embryonal tumour of possible germline origin
- CAKUT
- Sarcoma susceptibility
- Unexplained kidney failure in young people
- Skeletal dysplasia
- Adult solid tumours cancer susceptibility
- DDG2P
- Childhood solid tumours
- Fetal anomalies
- Clefting
History Filter Activity
31 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
17 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SMARCA4 was added gene: SMARCA4 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCA4 were set to Ovary with hypercalcemia; predisposition to small cell ca