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| Progressive Myoclonic Epilepsy v0.26 | CLN5 | Zornitza Stark Marked gene: CLN5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.26 | CLN5 | Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.26 | CLN5 | Zornitza Stark Publications for gene: CLN5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.25 | CLN5 | Zornitza Stark reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN5 | Noor Al-Ali reviewed gene: CLN5: 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: 20157158, 41003830, 39667065, 22532218, 32983231); Phenotypes: Onset at 4 to 7 years, progressive vision loss, retinal degeneration, nystagmus, clumsiness, motor deterioration, developmental regression, ataxia, dysarthria, dysmetria, dysdiadochokinesis, seizures, myoclonus, intellectual disability, cognitive impairment, neurophysiologic abnormalities (EEG, VEP, SEP), characteristic findings on MRI, autofluorescent lipopigment in neurons, cerebellar atrophy (in one family), concentration difficulties, “fingerprint” profiles ultrastructurally, “curvilinear” profiles ultrastructurally, “rectilinear” profiles ultrastructurally.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN5 | Noor Al-Ali Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN5 | Noor Al-Ali reviewed gene: CLN5: 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: 20157158, 41003830, 39667065, 22532218, 32983231); Phenotypes: Onset at 4 to 7 years, progressive vision loss, retinal degeneration, nystagmus, clumsiness, motor deterioration, developmental regression, ataxia, dysarthria, dysmetria, dysdiadochokinesis, seizures, myoclonus, intellectual disability, cognitive impairment, neurophysiologic abnormalities (EEG, VEP, SEP), characteristic findings on MRI, autofluorescent lipopigment in neurons, cerebellar atrophy (in one family), concentration difficulties, “fingerprint” profiles ultrastructurally, “curvilinear” profiles ultrastructurally, “rectilinear” profiles ultrastructurally; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.0 | CLN5 |
Bryony Thompson gene: CLN5 was added gene: CLN5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, MIM#256731 |
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