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| Mitochondrial disorders v1.224 | MIPEP | Sarah Leigh Classified gene: MIPEP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.224 | MIPEP | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 4 cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.224 | MIPEP | Sarah Leigh Gene: mipep has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.223 | MIPEP |
Sarah Leigh gene: MIPEP was added gene: MIPEP was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIPEP were set to 27799064 Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, 617228 Review for gene: MIPEP was set to GREEN Added comment: From an initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Sources: Expert list |
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