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| Progressive Myoclonic Epilepsy v0.22 | CTSF | Noor Al-Ali reviewed gene: CTSF: Rating: RED; 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: No publications showing an association between pathogenic variants of the CTSF gene and progressive myoclonic epilepsy (PME); Phenotypes: : Progressive cognitive decline, dementia, motor abnormalities, tremor, ataxia, dysarthria, cerebellar signs, extrapyramidal signs, myoclonus, perioral dyskinesias, hyperreflexia, extensor plantar responses, primitive reflexes, seizures, diffuse cerebral atrophy, cerebellar atrophy, accumulation of autofluorescent material in neurons, behavioral changes, emotional lability, depression, skin fibroblasts showing osmiophilic cytoplasmic inclusions.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.0 | CTSF |
Bryony Thompson gene: CTSF was added gene: CTSF was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 |
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