ORAI1

ORAI calcium release-activated calcium modulator 1
OMIM: 610277
PanelMode of inheritanceDetails
5 panels
R-numbers: R340
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 9, 612782
R-numbers: R83
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 1 160565
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 2 615883
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 2, 615883
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 9 612782, T-B+ SCID, immunodeficiency, ectodermal dysplasia and myopathy, Combined immunodeficiency, Autoimmunity, EDA, non-progressive myopathy, Combined immunodeficiencies with associated or syndromic features