| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy_CMT - isolated v0.4 | PDK3 | Bryony Thompson Marked gene: PDK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.4 | PDK3 | Bryony Thompson Gene: pdk3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.4 | PDK3 | Bryony Thompson Classified gene: PDK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.4 | PDK3 | Bryony Thompson Gene: pdk3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.3 | PDK3 |
Bryony Thompson gene: PDK3 was added gene: PDK3 was added to Hereditary Neuropathy - isolated_RMH. Sources: 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 Review for gene: PDK3 was set to GREEN Added comment: Two unrelated families with the same variant and a single CMT case with another variant, and functional analyses conducted in patient fibroblasts and cell lines. Sources: Expert list |
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