Likely inborn error of metabolism - targeted testing not possible
Gene: DHTKD1The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:27 p.m. | Last Modified: 3 Aug 2022, 3:27 p.m.
Panel Version: 2.263
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 11:59 a.m. | Last Modified: 9 Mar 2022, 11:59 a.m.
Panel Version: 2.225
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.
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
Source: Expert Review Red was removed from gene: DHTKD1
Source NHS GMS was added to DHTKD1. Source London North GLH was added to DHTKD1.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes 2-aminoadipic and 2-oxoadipic aciduria, 204750 for gene: DHTKD1
gene: DHTKD1 was added gene: DHTKD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DHTKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DHTKD1 were set to 27604308 Phenotypes for gene: DHTKD1 were set to 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism); 2-aminoadipic and 2-oxoadipic aciduria, 204750; 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)