09 Feb 2022
Mitochondrial disorders v2.86
DHTKD1
Arina Puzriakova Mode of inheritance for gene: DHTKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
19 Jun 2019
Mitochondrial disorders v1.392
DHTKD1
Sarah Leigh Classified gene: DHTKD1 as Red List (low evidence)
19 Jun 2019
Mitochondrial disorders v1.392
DHTKD1
Sarah Leigh Added comment: Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.
19 Jun 2019
Mitochondrial disorders v1.392
DHTKD1
Sarah Leigh Gene: dhtkd1 has been classified as Red List (Low Evidence).
19 Jun 2019
Mitochondrial disorders v1.388
DHTKD1
Anna de Burca reviewed gene: DHTKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 2-aminoadipic 2-oxoadipic aciduria, 204750, ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025; Mode of inheritance:
11 Jun 2019
Mitochondrial disorders v1.384
DHTKD1
Carl Fratter reviewed gene: DHTKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 2-aminoadipic 2-oxoadipic aciduria, 204750, ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025; Mode of inheritance:
29 Aug 2018
Mitochondrial disorders
DHTKD1
Zornitza Stark reviewed gene: DHTKD1