Activity
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| Likely inborn error of metabolism v1.57 | UQCRQ | Sarah Leigh Phenotypes for gene: UQCRQ were changed from Mitochondrial complex III deficiency, nuclear type 4, 615159; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency to Mitochondrial complex III deficiency, nuclear type 4, 615159 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.56 | UQCRQ | Sarah Leigh Publications for gene: UQCRQ were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.55 | UQCRQ | Sarah Leigh Classified gene: UQCRQ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.55 | UQCRQ | Sarah Leigh Added comment: Comment on list classification: Amber review collated by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: One variant reported in a consanguineous Israeli Bedouin kindred with Mitochondrial complex III deficiency, nuclear type 4 (615159)(PMID: 18439546). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.55 | UQCRQ | Sarah Leigh Gene: uqcrq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | UQCRQ |
Ivone Leong Source NHS GMS was added to UQCRQ. Source London North GLH was added to UQCRQ. |
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| Likely inborn error of metabolism v0.4 | UQCRQ | Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159; Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency for gene: UQCRQ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | UQCRQ |
Ellen McDonagh gene: UQCRQ was added gene: UQCRQ was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRQ were set to 27604308 Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159; Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex III deficiency; Mitochondrial Respiratory Chain Complex III Deficiency |
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