Hereditary neuropathy
Gene: PDK3
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
2 families and some functional work. PMID: 23297365 (Kennerson et al, 2013) Australian family appears to segregateand some functional work; PMID: 26801680 (Kennerson et al, 2016) Korean familyCreated: 29 Apr 2019, 12:30 p.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, 300905
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Await further evidence before promote to green listCreated: 8 Jul 2016, 4:01 a.m.
Comment on publications: Two families have now been reported with the p.R158H mutation, though this is still not enough evidence to be rated green, with only one known Charcot-Marie-Tooth disease-causing variant in this gene reported to date.Created: 5 May 2016, 9:22 a.m.
Comment on mode of inheritance: Seems to be X-linked dominant (monoallelic mutations in females could cause the disorder).Created: 5 May 2016, 9:19 a.m.
Now 2 families, likely pathogenicCreated: 16 May 2019, 4:21 p.m.
Single familyCreated: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Single familyCreated: 8 Dec 2015, 3:06 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Source London North GLH was added to PDK3.
Added phenotypes ?Charcot Marie Tooth disease, X linked dominant, 6, 300905 for gene: PDK3 Publications for gene PDK3 were changed from PMID: 23297365 (Kennerson et al, 2013) Australian family; PMID: 26801680 (Kennerson et al, 2016) Korean family to 26801680; 23297365
Source NHS GMS was added to PDK3.
Source South West GLH was added to PDK3.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for PDK3 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for PDK3 were set to PMID: 23297365 (Kennerson et al, 2013) Australian family; PMID: 26801680 (Kennerson et al, 2016) Korean family
Publications for PDK3 were set to PMID: 23297365 (Kennerson et al, 2013) Australian family; PMID: 26801680 (Kennerson et al, 2016) Korean family
PDK3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen