This Panel is marked as Internal
Renal and urinary tract disorders
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
1 review
Helen Stuart (University of Manchester)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- OMIM
- 603254
- Clinvar variants
- Variants in SMARCA4
- Penetrance
- None
- Panels with this gene
-
- 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
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SMARCA4 was added gene: SMARCA4 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: SMARCA4 was set to Unknown