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Mitochondrial disorder with complex IV deficiency v2.5 FASTKD2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: FASTKD2.
Tag Q3_22_NHS_review was removed from gene: FASTKD2.
Tag Q3_22_expert_review was removed from gene: FASTKD2.
Mitochondrial disorder with complex IV deficiency v2.5 FASTKD2 Achchuthan Shanmugasundram reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex IV deficiency v2.4 FASTKD2 Achchuthan Shanmugasundram Source Expert Review Red was added to FASTKD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Mitochondrial disorder with complex IV deficiency v1.24 FASTKD2 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: FASTKD2.
Mitochondrial disorder with complex IV deficiency v1.24 FASTKD2 Arina Puzriakova Tag Q3_22_NHS_review tag was added to gene: FASTKD2.
Mitochondrial disorder with complex IV deficiency v1.24 FASTKD2 Arina Puzriakova Publications for gene: FASTKD2 were set to 28499982
Mitochondrial disorder with complex IV deficiency v1.23 FASTKD2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: FASTKD2.
Mitochondrial disorder with complex IV deficiency v1.23 FASTKD2 Arina Puzriakova reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: None; Publications: 31944455; Phenotypes: Combined oxidative phosphorylation deficiency 44, OMIM:618855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v1.23 FASTKD2 Arina Puzriakova Phenotypes for gene: FASTKD2 were changed from ?Mitochondrial complex IV deficiency, 220110 to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Mitochondrial disorder with complex IV deficiency v0.3 FASTKD2 Ivone Leong reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28499982; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.2 FASTKD2 Ivone Leong gene: FASTKD2 was added
gene: FASTKD2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 28499982
Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110