Miscellaneous Metabolic Disorders

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 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>10 cases with biallelic variants reported and null mouse model has severe metabolic abnormalities
Sources: NHS GMS
Created: 8 Feb 2021, 3:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 2-aminoadipic 2-oxoadipic aciduria MIM#204750
  • Disorders of histidine, tryptophan or lysine metabolism
OMIM
614984
Clinvar variants
Variants in DHTKD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dhtkd1 has been classified as Green List (High Evidence).

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dhtkd1 has been classified as Green List (High Evidence).

8 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DHTKD1 was added gene: DHTKD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHTKD1 were set to 27604308; 23141293; 29661920; 25860818 Phenotypes for gene: DHTKD1 were set to 2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism Review for gene: DHTKD1 was set to GREEN