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Mitochondrial disorder with complex III deficiency v0.25 | UQCRQ | Ellen McDonagh Marked gene: UQCRQ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.25 | UQCRQ | 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 v0.25 | UQCRQ | Ellen McDonagh Gene: uqcrq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.25 | UQCRQ | Ellen McDonagh Publications for gene: UQCRQ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.16 | UQCRQ | Carl Fratter reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: ; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.11 | UQCRQ | Anna de Burca Classified gene: UQCRQ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.11 | UQCRQ | Anna de Burca Gene: uqcrq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.3 | UQCRQ | Ivone Leong reviewed gene: UQCRQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.2 | UQCRQ |
Ivone Leong gene: UQCRQ was added gene: UQCRQ was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159 |