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DDG2P v3.12 PET100 Achchuthan Shanmugasundram reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 PET100 Achchuthan Shanmugasundram Source Expert Review Green was added to PET100.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.2 PET100 Rebecca Foulger reviewed gene: PET100: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 PET100 Rebecca Foulger gene: PET100 was added
gene: PET100 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110