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| Hereditary Neuropathy v1.105 | Bryony Thompson Copied gene ITPR3 from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.105 | ITPR3 |
Bryony Thompson gene: ITPR3 was added gene: ITPR3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature Mode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITPR3 were set to 32949214; 24627108; 36302985; 39270020; 39560673 Phenotypes for gene: ITPR3 were set to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111; Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254 Mode of pathogenicity for gene: ITPR3 was set to Other |
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