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| Likely inborn error of metabolism - targeted testing not possible v1.323 | COX8A |
Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency. No further variants reported to date (30/09/2019).; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency. The proband died from cardiorespiratory failure associated with infection and metabolic crisis at 12.5 years. No further variants reported to date (30/09/2019). |
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| Likely inborn error of metabolism - targeted testing not possible v1.323 | COX8A | Sarah Leigh Classified gene: COX8A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.323 | COX8A |
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a 12.5-year old girl, born of Turkish parents who were likely distantly related, with mitochondrial complex I deficiency. No further variants reported to date (30/09/2019). |
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| Likely inborn error of metabolism - targeted testing not possible v1.323 | COX8A | Sarah Leigh Gene: cox8a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.322 | COX8A | Sarah Leigh Added comment: Comment on phenotypes: Leigh-like syndrome and epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.322 | COX8A | Sarah Leigh Phenotypes for gene: COX8A were changed from Leigh-like syndrome and epilepsy to ?Mitochondrial complex IV deficiency 220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | COX8A |
Ellen McDonagh gene: COX8A was added gene: COX8A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX8A were set to PMID: 26685157 Phenotypes for gene: COX8A were set to Leigh-like syndrome and epilepsy |
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