PanelApp (stage)
  1. Genes and Genomic Entities
  2. ITPR3

ITPR3

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ITPR3 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111

Green ITPR3 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111