PanelApp
  1. Genes and Genomic Entities
  2. ITPR3

ITPR3

inositol 1,4,5-trisphosphate receptor type 3
OMIM: 147267, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ITPR3 in Mendeliome


Version 1.3512

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
  • Combined immunodeficiency, MONDO:0015131, ITPR3-related
  • Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254

Green ITPR3 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined immunodeficiency, MONDO:0015131, ITPR3-related
    • Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254

    Green ITPR3 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.68

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
    • Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254