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| Likely inborn error of metabolism - targeted testing not possible v4.49 | UQCRB | Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158; Mitochondrial Diseases; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial complex III deficiency, nuclear type 3 615158; Isolated complex III deficiency to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex III deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.354 | UQCRB | Catherine Snow commented on gene: UQCRB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | UQCRB |
Sarah Leigh Source Expert Review Green was added to UQCRB. Added phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 for gene: UQCRB Publications for gene UQCRB were changed from 27604308 to 25446085; 28604960; 12709789; 23454382 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | UQCRB |
Ivone Leong Source NHS GMS was added to UQCRB. Source London North GLH was added to UQCRB. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRB |
Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 3 615158; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) for gene: UQCRB Publications for gene UQCRB were changed from PMID: 12709789 (case report); PMID: 23454382 (functional study); PMID: 25446085 (functional study) to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | UQCRB |
Ellen McDonagh gene: UQCRB was added gene: UQCRB was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRB were set to PMID: 12709789 (case report); PMID: 23454382 (functional study); PMID: 25446085 (functional study) Phenotypes for gene: UQCRB were set to Mitochondrial Diseases; Mitochondrial complex III deficiency, nuclear type 3, 615158; Isolated complex III deficiency |
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