ITPR3

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

1 panel

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


Version 4.10
Latest signed off version: v4.0 (1 May 2024)

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