Genomics England
GMS Panels
Panels
Genes and Entities

ITPR3

inositol 1,4,5-trisphosphate receptor type 3
OMIM: 147267
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, demyelinating, type 1J, OMIM:620111