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| Hereditary Neuropathy v1.143 | Bryony Thompson Copied gene PDK3 from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.143 | PDK3 |
Bryony Thompson gene: PDK3 was added gene: PDK3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDK3 were set to 23297365; 26801680; 27388934; 28902413 Phenotypes for gene: PDK3 were set to Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905; HMSN |
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| Hereditary Neuropathy v0.11 | Bryony Thompson removed gene:PDK3 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.0 | PDK3 |
Bryony Thompson gene: PDK3 was added gene: PDK3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905; HMSN |
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