Inherited bleeding disorders
Gene: STIM1EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 12 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on mode of pathogenicity: Monoallelic missense variants consistent with a gain-of-function effect in Stormorken syndrome 185070Created: 4 Jan 2018, 1:58 p.m.
Louise Daugherty (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Stormorken syndrome
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Stormorken syndrome
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Stormorken syndrome 185070
- Tags
- OMIM
- 605921
- Clinvar variants
- Variants in STIM1
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Non-syndromic familial congenital anorectal malformations
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- DDG2P
- Amelogenesis imperfecta
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Inherited bleeding disorders
- Fetal anomalies
- COVID-19 research
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for STIM1 were set to Stormorken syndrome 185070
Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)Mode of pathogenicity for STIM1 was changed to Other - please provide details in the comments
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Louise Daugherty (Genomics England Curator)STIM1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)STIM1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)STIM1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene