| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorder with complex III deficiency v0.19 | UQCC3 | Ellen McDonagh Marked gene: UQCC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex III deficiency v0.19 | UQCC3 | Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex III deficiency v0.19 | UQCC3 | Ellen McDonagh Gene: uqcc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex III deficiency v0.19 | UQCC3 | Ellen McDonagh Publications for gene: UQCC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex III deficiency v0.16 | UQCC3 | Carl Fratter reviewed gene: UQCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 25008109; Phenotypes: ?Mitochondrial complex III deficiency, nuclear type 9, 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex III deficiency v0.10 | UQCC3 | Anna de Burca Classified gene: UQCC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex III deficiency v0.10 | UQCC3 | Anna de Burca Gene: uqcc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex III deficiency v0.3 | UQCC3 | Ivone Leong reviewed gene: UQCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex III deficiency, nuclear type 9, 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex III deficiency v0.2 | UQCC3 |
Ivone Leong gene: UQCC3 was added gene: UQCC3 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UQCC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCC3 were set to ?Mitochondrial complex III deficiency, nuclear type 9, 616111 |
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