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DDG2P v3.12 DHTKD1 Achchuthan Shanmugasundram reviewed gene: DHTKD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23141293; Phenotypes: 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA, OMIM:204750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 DHTKD1 Achchuthan Shanmugasundram Source Expert Review Green was added to DHTKD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.2 DHTKD1 Rebecca Foulger reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 DHTKD1 Rebecca Foulger gene: DHTKD1 was added
gene: DHTKD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHTKD1 were set to 23141293
Phenotypes for gene: DHTKD1 were set to 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA 204750