Inherited bleeding disorders
Gene: ORAI1Comment on list classification: Variants in STIM1 result in activation of ORAI1 peptide function which was predicted result in increased ORAI1 (610277)-mediated calcium influx in Stormorken syndrome 185070 (PMID 24619930). However, variants in ORAI1 have not been associated with this or other bleeding disorders. PMID: 26469693 states: “By contrast, autosomal dominant gain-of-function mutations in these genes [ORAI1 and STIM1] result in constitutive CRAC channel activation, SOCE, and increased intracellular Ca2+ levels that are associated with an overlapping spectrum of diseases, including non-syndromic tubular aggregate myopathy (TAM) and York platelet and Stormorken syndromes, two syndromes defined, besides myopathy, by thrombocytopenia, thrombopathy, and bleeding diathesis.”Created: 6 Feb 2018, 1:46 p.m.
Green gene for PID/myopathy but not for inherited bleeding platelet disorders (ITP in single patient) reported in NIHRRD-BR BRIDGE projectCreated: 18 Sep 2018, 10:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Stormorken syndrome
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
This gene has been classified as Amber List (Moderate Evidence).
Revised 19 December 2016
ORAI1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
ORAI1 was created by ellenmcdonagh
ORAI1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene