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| Mitochondrial disorders v2.35 | PMPCB | Sarah Leigh Phenotypes for gene: PMPCB were changed from Multiple mitochondrial dysfunctions syndrome 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954; multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.349 | PMPCB | Sarah Leigh Phenotypes for gene: PMPCB were changed from to Multiple mitochondrial dysfunctions syndrome 6, 617954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.348 | PMPCB | Sarah Leigh Publications for gene: PMPCB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.347 | PMPCB | Sarah Leigh Mode of inheritance for gene: PMPCB was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.346 | PMPCB | Sarah Leigh Classified gene: PMPCB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.346 | PMPCB |
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: 4 unrelated families/patients. From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187). |
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| Mitochondrial disorders v1.346 | PMPCB | Sarah Leigh Gene: pmpcb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.293 | PMPCB |
Sarah Leigh gene: PMPCB was added gene: PMPCB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PMPCB was set to |
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