Embryonal tumour of possible germline origin
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 15 panels
EnsemblGeneIds (GRCh38): ENSG00000127616
EnsemblGeneIds (GRCh37): ENSG00000127616
OMIM: 603254, Gene2Phenotype
SMARCA4 is in 15 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
SMARCA4 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:10 p.m. | Last Modified: 26 Jan 2026, 6:10 p.m.
Panel Version: 0.7
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #613325) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 11:14 a.m. | Last Modified: 30 Dec 2025, 11:14 a.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Rhabdoid tumor predisposition syndrome 2}, OMIM:613325; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
- {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325
- OMIM
- 603254
- Clinvar variants
- Variants in SMARCA4
- Penetrance
- None
- Panels with this gene
-
- Clefting
- CAKUT
- Familial rhabdoid tumours
- Intellectual disability
- Embryonal tumour of possible germline origin
- Fetal anomalies
- Childhood solid tumours
- Adult solid tumours for rare disease
- Skeletal dysplasia
- Sarcoma susceptibility
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Unexplained young onset end-stage renal disease - additional genes
- DDG2P
- Childhood solid tumours cancer susceptibility
History Filter Activity
30 Dec 2025, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: SMARCA4 was added gene: SMARCA4 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,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 Rhabdoid tumor predisposition syndrome 2, MONDO:0013224; {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325