Genomics England
GMS Panels
Panels
Genes and Entities

ITPR3

inositol 1,4,5-trisphosphate receptor type 3
OMIM: 147267
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.163
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, demyelinating, type 1J, OMIM:620111
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.26
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
combined immunodeficiency, MONDO:0015131