Genomics England
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Panels
Genes and Entities
ITPR3
inositol 1,4,5-trisphosphate receptor type 3
OMIM:
147267
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Panel
Mode of inheritance
Details
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in
Hereditary neuropathy or pain disorder
R-numbers:
R78
Signed-off version 4.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, demyelinating, type 1J, OMIM:620111