Early-onset Parkinson disease
Gene: PSAPEnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 16 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Phenotypes
Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491
Seb Lunke (Victorian Clinical Genetics Services)
Comment on list classification: Described onset between 33 and 60yrsCreated: 1 Mar 2021, 5:07 a.m. | Last Modified: 1 Mar 2021, 5:07 a.m.
Panel Version: 0.100
Ain Roesley (Victorian Clinical Genetics Services)
- 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: LiteratureCreated: 1 Mar 2021, 5:02 a.m. | Last Modified: 1 Mar 2021, 5:04 a.m.
Panel Version: 0.98
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
parkinson's disease
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491
- OMIM
- 176801
- Clinvar variants
- Variants in PSAP
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Macrocephaly_Megalencephaly
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Callosome
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PSAP were changed from Parkinson Disease, AD to Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: psap has been classified as Green List (High Evidence).
Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)Phenotypes for gene: PSAP were changed from parkinson's disease to Parkinson Disease, AD
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: psap has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: psap has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)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