Genomics England
GMS Panels
Panels
Genes and Entities

ORAI1

ORAI calcium release-activated calcium modulator 1
OMIM: 610277
PanelMode of inheritanceDetails
5 panels
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 9, 612782
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 6.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 1 160565
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 2, OMIM:615883
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.33
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 2, 615883
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
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