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| Mitochondrial disorders v1.104 | ISCA1 | Ellen McDonagh Classified gene: ISCA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.104 | ISCA1 | Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green. A homozygous variant has been reported in two unrelated Indian families, and a second case homozygous for a different variant has been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.104 | ISCA1 | Ellen McDonagh Gene: isca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.103 | ISCA1 |
Ellen McDonagh gene: ISCA1 was added gene: ISCA1 was added to Mitochondrial disorders. Sources: Expert list,Expert Review Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 28356563; 29767723 Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 Added comment: This gene was added to this panel, after being added to the 'Pyruvate dehydrogenase (PDH) deficiency' gene panel. The gene and information added for the 'Pyruvate dehydrogenase (PDH) deficiency' gene panel was collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: ISCA1; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication. Sources: Expert list, Expert Review |
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