Hereditary neuropathy
Gene: DHTKD1
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.
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750
Variants in this GENE are reported as part of current diagnostic practice
only a single heterozygous nonsense mutation has been reorted in a large Chinese pedigreeCreated: 9 Dec 2015, 4:47 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Remove from panel, only single mutation reported was a non-sense mutation but this has been reported as a benign polymorphism in the heterozygous state.Created: 9 Dec 2015, 8:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Remove from panel, only single mutation reported was a non-sense mutation but this has been reported as a benign polymorphism in the heterozygous state.Created: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DHTKD1 were changed from Charcot Marie Tooth disease, axonal, type 2Q, 615025; other; 2 aminoadipic 2 oxoadipic aciduria, 204750; 2 aminoadipic 2 oxoadipic aciduria, 204750 to Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750; 2 aminoadipic 2 oxoadipic aciduria, 204750
Added phenotypes Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750 for gene: DHTKD1
Source NHS GMS was added to DHTKD1.
Source South West GLH was added to DHTKD1.
DHTKD1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen