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| Progressive Myoclonic Epilepsy v0.22 | CTSD | Noor Al-Ali reviewed gene: CTSD: 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 this gene and progressive myoclonic epilepsy (PME); Phenotypes: Microcephaly, sloping forehead, low-set ears, progressive loss of vision, retinitis pigmentosa, retinal atrophy, broad nasal bridge, apnea, respiratory failure, overriding sutures, obliterated fontanelles, intracellular granular osmiophilic deposits, spasticity, rigidity, seizures, status epilepticus, ataxia, some patients may show normal early development, cognitive decline, severe intellectual disability, loss of motor functions, MRI shows cerebral atrophy, MRI shows cerebellar atrophy, neuronal loss in the cerebrum and cerebellum, glial activation, white matter lacks axons and myelin, autofluorescent lipopigment in neurons, granular osmiophilic cytoplasmic deposits in Schwann cells, myelin-like lamellar structures in Schwann cells.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CTSD | Noor Al-Ali Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CTSD | Noor Al-Ali reviewed gene: CTSD: 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 publication showing an association between this gene and progressive myoclonic epilepsy (PME); Phenotypes: Microcephaly, sloping forehead, low-set ears, progressive loss of vision, retinitis pigmentosa, retinal atrophy, broad nasal bridge, apnea, respiratory failure, overriding sutures, obliterated fontanelles, intracellular granular osmiophilic deposits, spasticity, rigidity, seizures, status epilepticus, ataxia, some patients may show normal early development, cognitive decline, severe intellectual disability, loss of motor functions, MRI shows cerebral atrophy, MRI shows cerebellar atrophy, neuronal loss in the cerebrum and cerebellum, glial activation, white matter lacks axons and myelin, autofluorescent lipopigment in neurons, granular osmiophilic cytoplasmic deposits in Schwann cells, myelin-like lamellar structures in Schwann cells.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.0 | CTSD |
Bryony Thompson gene: CTSD was added gene: CTSD was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127 |
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