Miscellaneous Metabolic Disorders
Gene: DHTKD1EnsemblGeneIds (GRCh38): ENSG00000181192
EnsemblGeneIds (GRCh37): ENSG00000181192
OMIM: 614984, Gene2Phenotype
DHTKD1 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
>10 cases with biallelic variants reported and null mouse model has severe metabolic abnormalities
Sources: NHS GMSCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dhtkd1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dhtkd1 has been classified as Green List (High Evidence).
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