Possible mitochondrial disorder - nuclear genes

Gene: DHTKD1

Red List (low evidence)

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

I don't know

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

• 10655159

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.

Green List (high evidence)

2-Aminoadipic and 2-Oxoadipic Aciduria?

Created: 4 Feb 2016, 2:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted