| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Progressive Myoclonic Epilepsy v0.28 | CLN3 | Zornitza Stark Marked gene: CLN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.28 | CLN3 | Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.28 | CLN3 | Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 204200 to Ceroid lipofuscinosis, neuronal, 3 MIM#204200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.27 | CLN3 | Zornitza Stark Publications for gene: CLN3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.26 | CLN3 | Zornitza Stark reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 MIM#204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN3 | Noor Al-Ali reviewed gene: CLN3: 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: 9311735, 24827497, 21990111, 31568712, 30884409); Phenotypes: Onset at 4 to 10 years, progressive vision loss (4 to 10 years), blindness (6 to 14 years), retinitis pigmentosa, macular degeneration, optic atrophy, abolished electroretinogram (ERG), glaucoma, lens-induced, cataract, juvenile-onset mature, concentric hypertrophic cardiomyopathy, severe (later onset in protracted cases), autophagic vacuoles seen on biopsy (in some patients), intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients), psychomotor degeneration, intellectual disability, dementia, extrapyramidal signs, myoclonus, parkinsonism, cerebellar signs, progressive inability to walk, seizures, dysarthria, autofluorescent lipopigment in neurons, cerebral atrophy, difficulty in school, behavioural changes, mood disturbances, anxiety, psychosis, vacuolated lymphocytes, lipopigment in extraneuronal cells, “fingerprint profiles” ultrastructurally in cells, “curvilinear profiles” ultrastructurally in cells.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN3 | Noor Al-Ali Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.22 | CLN3 | Noor Al-Ali reviewed gene: CLN3: 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: 9311735, 24827497, 21990111, 31568712, 30884409); Phenotypes: Onset at 4 to 10 years, progressive vision loss (4 to 10 years), blindness (6 to 14 years), retinitis pigmentosa, macular degeneration, optic atrophy, abolished electroretinogram (ERG), glaucoma, lens-induced, cataract, juvenile-onset mature, concentric hypertrophic cardiomyopathy, severe (later onset in protracted cases), autophagic vacuoles seen on biopsy (in some patients), intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients), psychomotor degeneration, intellectual disability, dementia, extrapyramidal signs, myoclonus, parkinsonism, cerebellar signs, progressive inability to walk, seizures, dysarthria, autofluorescent lipopigment in neurons, cerebral atrophy, difficulty in school, behavioural changes, mood disturbances, anxiety, psychosis, vacuolated lymphocytes, lipopigment in extraneuronal cells, “fingerprint profiles” ultrastructurally in cells, “curvilinear profiles” ultrastructurally in cells.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.0 | CLN3 |
Bryony Thompson gene: CLN3 was added gene: CLN3 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 204200 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||