This Panel is marked as Retired
Multiple Tumours
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, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Rhabdoid tumor predisposition syndrome 2, 613325
- Mental retardation, autosomal dominant 16, 614609
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 603254
- Clinvar variants
- Variants in SMARCA4
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- 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
- Adult solid tumours cancer susceptibility
- Intellectual disability
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Skeletal dysplasia
- DDG2P
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)SMARCA4 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Jul 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SMARCA4 was added to Multiple Tumourspanel. Sources: Radboud University Medical Center, Nijmegen