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Possible mitochondrial disorder - nuclear genes

Gene: DHTKD1

Red List (low evidence)

DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000181192
EnsemblGeneIds (GRCh37): ENSG00000181192
OMIM: 614984, Gene2Phenotype
DHTKD1 is in 11 panels

4 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

Ellen McDonagh (Genomics England Curator)

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.

Shamima Rahman (UCL Institute of Child Health)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025
  • 2-aminoadipic 2-oxoadipic aciduria, 204750
OMIM
614984
Clinvar variants
Variants in DHTKD1
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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