Aminoacidopathy
Gene: DHTKD1EnsemblGeneIds (GRCh38): ENSG00000181192
EnsemblGeneIds (GRCh37): ENSG00000181192
OMIM: 614984, Gene2Phenotype
DHTKD1 is in 6 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Definitive by ClinGen Aminoacidopathy GCEP on 03/11/2020 - https://search.clinicalgenome.org/CCID:004644
Reported in >10 probands with biochemical abnormalities. Mouse models and functional assays have been conducted that confirm LoF mechanism of disease.
Sources: ClinGenCreated: 23 May 2024, 11:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
2-aminoadipic 2-oxoadipic aciduria MONDO:0008774
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774
- OMIM
- 614984
- Clinvar variants
- Variants in DHTKD1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhtkd1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DHTKD1 were set to 26141459, 25860818, 23141293
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhtkd1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: DHTKD1 was added gene: DHTKD1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHTKD1 were set to 26141459, 25860818, 23141293 Phenotypes for gene: DHTKD1 were set to 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774 Review for gene: DHTKD1 was set to GREEN