Possible mitochondrial disorder - nuclear genes
Gene: DHTKD1
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
2-aminoadipic 2-oxoadipic aciduria, 204750; ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025
Definitely a green gene for a metabolic disorder. What is the link with mitochondrial disease? One reported patient with this disorder had features of Kearns-Sayre syndrome, but was found to have a mitochondrial deletion.Created: 29 Aug 2018, 5:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
2-aminoadipic 2-oxoadipic aciduria, MIM#204750
Publications
Comment on mode of inheritance: Monoallelic suggested by reviewer, but biallelic indicated on OMIM and G2P for this phenotype.Created: 26 Feb 2016, 5:40 p.m.
Comment on list classification: Promoted from red to green - also green on the intellectual disability panel and is a probable DD gene for this particular phenotype.Created: 26 Feb 2016, 5:38 p.m.
2-Aminoadipic and 2-Oxoadipic Aciduria?Created: 4 Feb 2016, 2:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: DHTKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
gene: DHTKD1 was added gene: DHTKD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: DHTKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DHTKD1 were set to ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025; 2-aminoadipic 2-oxoadipic aciduria, 204750