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Mitochondrial disorders v1.305 | CA5A | Sarah Leigh Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.304 | CA5A | Sarah Leigh Publications for gene: CA5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.303 | CA5A | Sarah Leigh Mode of inheritance for gene: CA5A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.302 | CA5A | Sarah Leigh Classified gene: CA5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.302 | CA5A | Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Multiple unrelated families; discussed & agreed that this should be included within 'primary mitochondrial disease' (symptoms include hyperammonemia, hyperlactatemia and ketonuria). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.302 | CA5A | Sarah Leigh Gene: ca5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.293 | CA5A |
Sarah Leigh gene: CA5A was added gene: CA5A was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CA5A was set to |