ITPR3

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

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber ITPR3 in Hereditary neuropathy or pain disorder


Version 3.94
Latest signed off version: v3.24 (15 May 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1J, OMIM:620111
Tags
  • Q3_23_promote_green