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Mitochondrial disorder with complex III deficiency v2.3 | UQCRB | Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.21 | UQCRB | Ellen McDonagh Marked gene: UQCRB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.21 | UQCRB | Ellen McDonagh Gene: uqcrb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.21 | UQCRB | Ellen McDonagh Classified gene: UQCRB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.21 | UQCRB | Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported (both with deletions) and supporting functional evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.21 | UQCRB | Ellen McDonagh Gene: uqcrb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.20 | UQCRB | Ellen McDonagh Publications for gene: UQCRB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.16 | UQCRB | Carl Fratter reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 12709789, 25446085, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.12 | UQCRB | Anna de Burca Classified gene: UQCRB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.12 | UQCRB | Anna de Burca Gene: uqcrb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.3 | UQCRB | Ivone Leong reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex III deficiency v0.2 | UQCRB |
Ivone Leong gene: UQCRB was added gene: UQCRB was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158 |