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| Progressive Myoclonic Epilepsy v0.25 | CLN6 | Zornitza Stark Marked gene: CLN6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.25 | CLN6 | Zornitza Stark Gene: cln6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.25 | CLN6 | Zornitza Stark Publications for gene: CLN6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.24 | CLN6 | Zornitza Stark reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN6 | Noor Al-Ali reviewed gene: CLN6: 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: 21549341, 30561534, 33024953, 34597687); Phenotypes: Seizures, cerebellar ataxia, extrapyramidal signs, myoclonus, dementia, cerebral atrophy, autofluorescent lipopigment in neurons, leukoencephalopathy on CT and MRI, behavioral changes, depression, auditory and visual hallucinations, granular osmiophilic deposits (GROD) in cells resulting in “fingerprint” profiles ultrastructurally, granular osmiophilic deposits (GROD) in cells resulting in “curvilinear” profiles ultrastructurally, granular osmiophilic deposits (GROD) in cells resulting in “rectilinear” profiles ultrastructurally, onset in adulthood (third to fourth decade).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN6 | Noor Al-Ali Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN6 | Noor Al-Ali reviewed gene: CLN6: 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: 21549341, 30561534, 33024953, 34597687); Phenotypes: Seizures, cerebellar ataxia, extrapyramidal signs, myoclonus, dementia, cerebral atrophy, autofluorescent lipopigment in neurons, leukoencephalopathy on CT and MRI, behavioral changes, depression, auditory and visual hallucinations, granular osmiophilic deposits (GROD) in cells resulting in “fingerprint” profiles ultrastructurally, granular osmiophilic deposits (GROD) in cells resulting in “curvilinear” profiles ultrastructurally, granular osmiophilic deposits (GROD) in cells resulting in “rectilinear” profiles ultrastructurally, onset in adulthood (third to fourth decade).; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.0 | CLN6 |
Bryony Thompson gene: CLN6 was added gene: CLN6 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780 |
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