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| Progressive Myoclonic Epilepsy v0.24 | CLN8 | Zornitza Stark Marked gene: CLN8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.24 | CLN8 | Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.24 | CLN8 | Zornitza Stark Publications for gene: CLN8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.23 | CLN8 | Zornitza Stark reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN8 | Noor Al-Ali reviewed gene: CLN8: 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: 30741402, 26443629, 29422019, 17129765); Phenotypes: Progressive vision loss, developmental regression, seizures, ataxia, speech and language difficulties, myoclonus, EEG abnormalities, cerebral atrophy, cerebellar atrophy, autofluorescent lipopigment in neurons, intracellular fingerprint profiles on ultrastructural analysis, intracellular curvilinear profiles on ultrastructural analysis, onset at 2 to 7 years of age, most patients lose ambulation two years after onset.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN8 | Noor Al-Ali Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN8 | Noor Al-Ali reviewed gene: CLN8: 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: 30741402, 26443629, 29422019, 17129765); Phenotypes: Progressive vision loss, developmental regression, seizures, ataxia, speech and language difficulties, myoclonus, EEG abnormalities, cerebral atrophy, cerebellar atrophy, autofluorescent lipopigment in neurons, intracellular fingerprint profiles on ultrastructural analysis, intracellular curvilinear profiles on ultrastructural analysis, onset at 2 to 7 years of age, most patients lose ambulation two years after onset.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.0 | CLN8 |
Bryony Thompson gene: CLN8 was added gene: CLN8 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; Ceroid lipofuscinosis, neuronal, 8 600143 |
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