Mitochondrial disorders
Gene: DHTKD1Comment 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.
Not a mitochondrial diseaseCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
2-aminoadipic 2-oxoadipic aciduria, 204750; ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025
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 groupsCreated: 11 Jun 2019, 3:59 p.m.
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 has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for DHTKD1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for DHTKD1 were set to 2-aminoadipic and 2-oxoadipic aciduria, 204750
Phenotypes for DHTKD1 were set to 2-aminoadipic 2-oxoadipic aciduria, 204750
This gene has been classified as Green List (High Evidence).
DHTKD1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen