PanelApp (stage)
  1. Genes and Genomic Entities
  2. ORAI1

ORAI1

ORAI calcium release-activated calcium modulator 1
OMIM: 610277, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green ORAI1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ORAI1 in Mendeliome


    Version 1.1891

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 9, MIM# 612782
    • Myopathy, tubular aggregate, 2, MIM# 615883

    Green ORAI1 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 9, MIM# 612782

    Green ORAI1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Myopathy, tubular aggregate, 2 (MIM#615883)

    Green ORAI1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency 9, 612782 (3)

    Green ORAI1 in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 1.10

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Immunodeficiency 9, MIM# 612782
    • Hypocalcified amelogenesis imperfecta

    Green ORAI1 in Fetal anomalies


    Version 1.255

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert list
    Phenotypes
    • Myopathy, tubular aggregate, 2 - #615883

    Green ORAI1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency 9, 612782 (3)

    Green ORAI1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Immunodeficiency 9, MIM# 612782
    Tags
    • treatable
    • immunological