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| Early-onset Parkinson disease v0.111 | PSAP | Zornitza Stark Phenotypes for gene: PSAP were changed from Parkinson Disease, AD to Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.110 | PSAP | Zornitza Stark reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.101 | PSAP | Seb Lunke Marked gene: PSAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.101 | PSAP | Seb Lunke Gene: psap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.101 | PSAP | Seb Lunke Phenotypes for gene: PSAP were changed from parkinson's disease to Parkinson Disease, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.100 | PSAP | Seb Lunke Classified gene: PSAP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.100 | PSAP | Seb Lunke Added comment: Comment on list classification: Described onset between 33 and 60yrs | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.100 | PSAP | Seb Lunke Gene: psap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.99 | PSAP | Seb Lunke Classified gene: PSAP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.99 | PSAP | Seb Lunke Gene: psap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.98 | PSAP |
Ain Roesley changed review comment from: 6 affecteds from 3 families. Age of onset ranges from 33-60. Functional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration Sources: Literature; to: - 6 affecteds from 3 families. Age of onset ranges from 33-60. - 2x missense and 1 inframe del - Functional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration Sources: Literature |
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| Early-onset Parkinson disease v0.98 | PSAP |
Ain Roesley gene: PSAP was added gene: PSAP was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: PSAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSAP were set to 32201884 Phenotypes for gene: PSAP were set to parkinson's disease Penetrance for gene: PSAP were set to unknown Review for gene: PSAP was set to GREEN Added comment: 6 affecteds from 3 families. Age of onset ranges from 33-60. Functional studies: Autophagic vacuole accumulation in skin fibroblasts , a-Synuclein aggregation and PSAP retention in the ER and abnormal intracellular accumulation in iPSC-dopaminergic neurons. Mouse model for one of 1 of the variants had motor deficits and dopaminergic neurodegeneration Sources: Literature |
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