Hereditary Neuropathy_CMT - isolated

Gene: PDK3

Green List (high evidence)

PDK3 (pyruvate dehydrogenase kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000067992
EnsemblGeneIds (GRCh37): ENSG00000067992
OMIM: 300906, Gene2Phenotype
PDK3 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England)

Narayanan 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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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
Created: 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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905
  • HMSN
OMIM
300906
Clinvar variants
Variants in PDK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pdk3 has been classified as Green List (High Evidence).

23 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pdk3 has been classified as Green List (High Evidence).

23 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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