This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
Gene: SMARCA2
SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2)
EnsemblGeneIds (GRCh38): ENSG00000080503
EnsemblGeneIds (GRCh37): ENSG00000080503
OMIM: 600014, Gene2Phenotype
SMARCA2 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000080503
EnsemblGeneIds (GRCh37): ENSG00000080503
OMIM: 600014, Gene2Phenotype
SMARCA2 is in 5 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Causes a small number of cases of Coffin Siris. Recognised on G2PCreated: 23 Nov 2016, 9:33 a.m.
alisdair mcneill (Sheffield childrens hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability; coffin-siris syndrome
Publications
- http://www.ncbi.nlm.nih.gov/pubmed/25169878
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- OMIM
- 600014
- Clinvar variants
- Variants in SMARCA2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
23 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
23 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
29 Jun 2016, Gel status: 0
Created
alisdair mcneill (Sheffield childrens hospital)SMARCA2 was created by [email protected]
29 Jun 2016, Gel status: 0
Added New Source
alisdair mcneill (Sheffield childrens hospital)SMARCA2 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list