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| Likely inborn error of metabolism - targeted testing not possible v1.339 | ISCA2 | Sarah Leigh Classified gene: ISCA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.339 | ISCA2 | Sarah Leigh Gene: isca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.338 | ISCA2 | Sarah Leigh Added comment: Comment on phenotypes: infantile neurodegenerative mitochondrial disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.338 | ISCA2 | Sarah Leigh Phenotypes for gene: ISCA2 were changed from Multiple mitochondrial dysfunctions syndrome 4 616370 to Multiple mitochondrial dysfunctions syndrome 4 616370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.337 | ISCA2 | Sarah Leigh Publications for gene: ISCA2 were set to 25539947; 29359243; 29122497 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.336 | ISCA2 | Sarah Leigh Classified gene: ISCA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.336 | ISCA2 |
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two different ethinicities. Rated green based on review of Anna de Burca (Clinical Fellow, Genomic England). |
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| Likely inborn error of metabolism - targeted testing not possible v1.336 | ISCA2 | Sarah Leigh Gene: isca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.335 | ISCA2 | Sarah Leigh Added comment: Comment on phenotypes: infantile neurodegenerative mitochondrial disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.335 | ISCA2 | Sarah Leigh Phenotypes for gene: ISCA2 were changed from infantile neurodegenerative mitochondrial disorder to Multiple mitochondrial dysfunctions syndrome 4 616370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.334 | ISCA2 | Sarah Leigh Publications for gene: ISCA2 were set to PMID: 25539947 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | ISCA2 |
Ellen McDonagh gene: ISCA2 was added gene: ISCA2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA2 were set to PMID: 25539947 Phenotypes for gene: ISCA2 were set to infantile neurodegenerative mitochondrial disorder |
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