Hereditary Neuropathy_CMT - isolated
Gene: PDK3Narayanan et al., 2021 (PMID: 34387338) developed a C. elegans model of CMTX6 by knocking-in the p.R158H variant in the orthologous PDK3 gene and by expressing the mutant form of human PDK3 specifically in the GABAergic motor neurons of C. elegans. Mutants exhibited axon-associated synaptic transmission deficits, locomotion defects, signs of progressive neurodegeneration and also displayed ATP deficits that recapitulate phenotypes observed in patient fibroblasts and iPSC-derived motor neurons.Created: 5 Jan 2022, 12:05 p.m. | Last Modified: 5 Jan 2022, 12:05 p.m.
Panel Version: 0.10519
Phenotypes
Charcot-Marie-Tooth disease, X-linked dominant, 6, OMIM:300905
Publications
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 listCreated: 23 Mar 2020, 3:27 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905; HMSN
Publications
Gene: pdk3 has been classified as Green List (High Evidence).
Gene: pdk3 has been classified as Green List (High Evidence).
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