This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: SMARCA1
SMARCA1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1)
EnsemblGeneIds (GRCh38): ENSG00000102038
EnsemblGeneIds (GRCh37): ENSG00000102038
OMIM: 300012, Gene2Phenotype
SMARCA1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000102038
EnsemblGeneIds (GRCh37): ENSG00000102038
OMIM: 300012, Gene2Phenotype
SMARCA1 is in 1 panel
2 reviews
Louise Daugherty (Genomics England Curator)
Clingen seems to group X-linked disorder with autosomal dominant https://search.clinicalgenome.org/kb/gene-validity/5479, the mode of inheritance for SMARCA1 should be X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Created: 25 Sep 2017, 1:16 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- ClinGen
- Phenotypes
-
- Coffin-Siris Syndrome
- ORPHA1465
- OMIM
- 300012
- Clinvar variants
- Variants in SMARCA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
22 Jun 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCA1 was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Amber
20 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCA1 was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen
20 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SMARCA1 was created by ellenmcdonagh