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| Genetic Epilepsy v0.2237 | MCM3AP | Zornitza Stark Marked gene: MCM3AP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2237 | MCM3AP | Zornitza Stark Gene: mcm3ap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2237 | MCM3AP | Zornitza Stark Classified gene: MCM3AP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2237 | MCM3AP | Zornitza Stark Gene: mcm3ap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2060 | MCM3AP |
Rylee Peters gene: MCM3AP was added gene: MCM3AP was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM3AP were set to 32202298 Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM#618124) Review for gene: MCM3AP was set to RED Added comment: - 2 families with probands compound heterozygous for variants in MCM3AP and a phenotype consistent with peripheral neuropathy with or without impaired intellectual development (MIM#618124). - Two siblings from one family have severe generalised epilepsy and mild spastic diplegia. - Functional studies using skin fibroblasts from these and other affected patients showed that disease variants result in depletion of GANP (encoded by MCM3AP) except when they alter critical residues in the Sac3 mRNA binding domain. GANP depletion was associated with more severe phenotypes compared with the Sac3 variants. Sources: Literature |
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