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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. |
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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) |
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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 |