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Likely inborn error of metabolism - targeted testing not possible v0.15 | FDXR | Sarah Leigh Classified gene: FDXR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.15 | FDXR | Sarah Leigh Added comment: Comment on list classification: Based on reviewer's rating and published evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.15 | FDXR | Sarah Leigh Gene: fdxr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.14 | FDXR |
Sarah Leigh gene: FDXR was added gene: FDXR was added to Inborn errors of metabolism. Sources: Expert Review,Literature Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 28965846 Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy 617717 Review for gene: FDXR was set to GREEN Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases. Sources: Expert Review, Literature |