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| Mitochondrial disorder with complex IV deficiency v1.13 | SQOR |
Sarah Leigh Tag for-review was removed from gene: SQOR. Tag Q2_21_rating was removed from gene: SQOR. |
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| Mitochondrial disorder with complex IV deficiency v1.13 | SQOR | Sarah Leigh commented on gene: SQOR: The rating of this gene has been updated following NHS Genomic Medicine Service approval | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v1.13 | SQOR |
Sarah Leigh Source Expert Review Green was added to SQOR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial disorder with complex IV deficiency v1.12 | SQOR | Ivone Leong Tag Q2_21_rating tag was added to gene: SQOR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v1.8 | SQOR | Sarah Leigh Publications for gene: SQOR were set to PMID: 32160317 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v1.7 | SQOR | Sarah Leigh Tag for-review tag was added to gene: SQOR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v1.7 | SQOR | Sarah Leigh Classified gene: SQOR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v1.7 | SQOR | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v1.7 | SQOR | Sarah Leigh Gene: sqor has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v1.6 | SQOR | Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies. The authors of PMID 32160317 hypothesise that in their patients, the low residual SQOR activity was likely sufficient to support H2S clearance during stable episodes but was insufficient during acute illness with catabolism resulting in H2S accumulation and toxicity.; to: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies. The authors of PMID 32160317 hypothesise that in their patients, the low residual SQOR activity was likely sufficient to support H2S clearance during stable episodes but was insufficient during acute illness with catabolism resulting in H2S accumulation and toxicity. They conclude that "SQOR deficiency represents a new, potentially treatable, cause of Leigh disease". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v1.6 | SQOR | Sarah Leigh reviewed gene: SQOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v1.6 | SQOR |
Carl Fratter gene: SQOR was added gene: SQOR was added to Mitochondrial disorder with complex IV deficiency. Sources: Literature Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SQOR were set to PMID: 32160317 Phenotypes for gene: SQOR were set to Leigh syndrome Review for gene: SQOR was set to AMBER Added comment: Requires review for GMS - should this be considered a primary mitochondrial disorder? Sources: Literature |
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