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Inborn errors of metabolism

Gene: DHTKD1

Green List (high evidence)

DHTKD1 (dehydrogenase E1 and transketolase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000181192
EnsemblGeneIds (GRCh37): ENSG00000181192
OMIM: 614984, Gene2Phenotype
DHTKD1 is in 10 panels

6 reviews

Sarah Leigh (Genomics England Curator)

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.

Anna de Burca (Genomics England Curator)

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

Carl Fratter (Oxford University Hospitals NHS Trust)

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

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
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
  • 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
  • 2-aminoadipic and 2-oxoadipic aciduria, 204750
OMIM
614984
Clinvar variants
Variants in DHTKD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DHTKD1. Source London North GLH was added to DHTKD1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes 2-aminoadipic and 2-oxoadipic aciduria, 204750 for gene: DHTKD1

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

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)