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Mitochondrial disorders v4.85 | 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 disorders v4.84 | UQCRB | Arina Puzriakova Publications for gene: UQCRB were set to 12709789; 25446085; 23454382; 28604960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.5 | UQCRB | Zornitza Stark reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281071, 28275242; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.374 | UQCRB | Sarah Leigh Phenotypes for gene: UQCRB were changed from Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 3, 615158; Mitochondrial Diseases to Mitochondrial complex III deficiency, nuclear type 3, 615158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.373 | UQCRB | Sarah Leigh Publications for gene: UQCRB were set to 12709789; 25446085; 23454382 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.372 | UQCRB | Sarah Leigh Added comment: Comment on publications: PMID: 12709789 (case report);PMID: 25446085 (functional study);PMID: 23454382 (functional study) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.372 | UQCRB | Sarah Leigh Publications for gene: UQCRB were set to PMID: 12709789 (case report); PMID: 25446085 (functional study); PMID: 23454382 (functional study) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.371 | UQCRB | Sarah Leigh Classified gene: UQCRB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.371 | UQCRB |
Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies. From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex III deficiency (Version 0.25). |
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Mitochondrial disorders v1.371 | UQCRB | Sarah Leigh Gene: uqcrb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.293 | UQCRB |
Sarah Leigh Source NHS GMS was added to UQCRB. Source Expert Review Green was added to UQCRB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |