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| Progressive Myoclonic Epilepsy v0.23 | EPM2A | Zornitza Stark Marked gene: EPM2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.23 | EPM2A | Zornitza Stark Gene: epm2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.23 | EPM2A | Zornitza Stark Publications for gene: EPM2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | EPM2A | Zornitza Stark reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | EPM2A | Noor Al-Ali reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 40442642, 35257260, 27574708, 40442642, 36211619, and many more); Phenotypes: Progressive loss of vision, photosensitivity, hepatic failure (not common), progressive myoclonic epilepsy, generalized tonic-clonic seizures, absence seizures, simple partial occipital seizures, simple partial seizures with secondary generalization, myoclonus, ataxia, progressive dementia, neurological deterioration, loss of ambulation, intracellular PAS-positive polyglucosan inclusion bodies (“Lafora bodies”), intracellular PAS-positive polyglucosan inclusion bodies (“Lafora bodies”) can be found in various tissues (brain, liver, muscle, heart, skin).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.0 | EPM2A |
Bryony Thompson gene: EPM2A was added gene: EPM2A was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780 |
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