Mitochondrial disorders

Gene: DHTKD1

Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.

Created: 19 Jun 2019, 12:39 p.m.

Red List (low evidence)

Not a mitochondrial disease

Created: 19 Jun 2019, 12:26 p.m.

Phenotypes
2-aminoadipic 2-oxoadipic aciduria, 204750; ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025

Red List (low evidence)

Red - not considered a primary mitochondrial disorder; DHTHD1 is predicted to be a thiamine diphosphate-dependent 2-oxo acid dehydrogenase for reduction of protein-bound lipoyl groups

Created: 11 Jun 2019, 3:59 p.m.

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