Genes in panel

Neurodegenerative disorders - adult onset

Gene: PSAP

No list

PSAP (prosaposin)
EnsemblGeneIds (GRCh38): ENSG00000197746
EnsemblGeneIds (GRCh37): ENSG00000197746
OMIM: 176801, Gene2Phenotype
PSAP is in 14 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Well established gene-disease association for bi-allelic variants.

Now early-onset PD reported with mono-allelic variants. 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
Created: 5 Mar 2021, 6:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Parkinson disease, AD

Publications

History Filter Activity

5 Mar 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PSAP was added gene: PSAP was added to Neurodegenerative disorders - adult onset. Sources: Literature Mode of inheritance for gene: PSAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSAP were set to 32201884 Phenotypes for gene: PSAP were set to Parkinson disease, AD Review for gene: PSAP was set to GREEN