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Mendeliome v1.700 PCK2 Bryony Thompson Classified gene: PCK2 as Amber List (moderate evidence)
Mendeliome v1.700 PCK2 Bryony Thompson Gene: pck2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.699 PCK2 Bryony Thompson reviewed gene: PCK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36845668; Phenotypes: Peripheral neuropathy (MONDO#0005244), PCK2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.633 PCK2 Ain Roesley Phenotypes for gene: PCK2 were changed from PEPCK deficiency, mitochondrial - MIM#261650 to PEPCK deficiency, mitochondrial - MIM#261650; peripheral neuropathy (MONDO#0005244), PCK2-related
Mendeliome v1.632 PCK2 Ain Roesley reviewed gene: PCK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: peripheral neuropathy (MONDO#0005244), PCK2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12887 PCK2 Zornitza Stark Marked gene: PCK2 as ready
Mendeliome v0.12887 PCK2 Zornitza Stark Gene: pck2 has been classified as Red List (Low Evidence).
Mendeliome v0.12887 PCK2 Zornitza Stark Phenotypes for gene: PCK2 were changed from to PEPCK deficiency, mitochondrial - MIM#261650
Mendeliome v0.12886 PCK2 Zornitza Stark Mode of inheritance for gene: PCK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12885 PCK2 Zornitza Stark Classified gene: PCK2 as Red List (low evidence)
Mendeliome v0.12885 PCK2 Zornitza Stark Gene: pck2 has been classified as Red List (Low Evidence).
Mendeliome v0.12855 PCK2 Krithika Murali reviewed gene: PCK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: PEPCK deficiency, mitochondrial - MIM#261650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 PCK2 Zornitza Stark gene: PCK2 was added
gene: PCK2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCK2 was set to Unknown