Non-syndromic familial congenital anorectal malformations
Gene: STIM1
STIM1 (stromal interaction molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 12 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: Phenotype added from publication PMID:23936318Created: 14 Aug 2018, 3:58 p.m.
Gene added to the panel a listed as a candidate gene in Wong et al 2013 (PMID:23936318) who performed a gene network analysis using genes identified in CNVs in an earlier paper (Wong et al 2013 (PMID: 23108157)).Created: 4 Aug 2018, 9:46 p.m.
Details
- Sources
-
- Literature
- Phenotypes
-
- anorectal malformation
- OMIM
- 605921
- Clinvar variants
- Variants in STIM1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Amelogenesis imperfecta
- Non-syndromic familial congenital anorectal malformations
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- DDG2P
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Inherited bleeding disorders
- Fetal anomalies
- COVID-19 research
History Filter Activity
8 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Gene added to the panel a list
14 Aug 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: STIM1 were set to anorectal malformation
3 Aug 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)STIM1 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
3 Aug 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)STIM1 was created by Eleanor Williams