| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy - complex v1.31 | COX18 | Zornitza Stark Marked gene: COX18 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.31 | COX18 | Zornitza Stark Gene: cox18 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.31 | COX18 | Zornitza Stark Classified gene: COX18 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.31 | COX18 | Zornitza Stark Gene: cox18 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.30 | COX18 |
Zornitza Stark gene: COX18 was added gene: COX18 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX18 were set to 37468577; 40830826 Phenotypes for gene: COX18 were set to Mitochondrial disease (MONDO:0044970), COX18-related Review for gene: COX18 was set to GREEN Added comment: PMID 40830826: Two sibs presenting with early onset progressive axonal sensory-motor peripheral neuropathy Family 1 (consanguineous) - two sibs affected with axonal CMT and homozygous c.435-6A>G - NFE AF - 0.001531% Family 2 - 4 sibs affected with axonal CMT and homozygous Leu72Arg - MID PopMax AF - 0.07120% Family 3 - two sibs with axonal CMT and compound het variants confirmed in trans - Ala110Pro; Arg297Pro Functional assay on c.435-6A>G showed stable but defective COX18 isoform - impairs CIV assembly and activity resulting in the reduction of mitochondrial membrane potential. Note earlier case report with multi-system mitochondrial disease, hence placing in this panel. Sources: Literature |
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