Early-onset Parkinson disease
Gene: PODXL

PODXL (podocalyxin like)
EnsemblGeneIds (GRCh38): ENSG00000128567
EnsemblGeneIds (GRCh37): ENSG00000128567
OMIM: 602632, Gene2Phenotype
PODXL is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Single consanguineous Indian family reported with a homozygous loss of function variant. A Podxl null mouse model has aberrant neurite length and number of branching points, and also evidence of impaired synaptogenesis. Subsequent screening in 280 Parkinson disease patients with various ages of onset identified 3 heterozygous missense variants (P429T, S373N, and R294Q; all numbering according to isoform 2), absent in gnomAD. Transfection of the missense variants into PC12 cells resulted in variable aberrant neurite length and/or branching, suggesting a functional effect. However, there is more evidence supporting the association of monoallelic and biallelic variants with FSGS (see Proteinuria panel). There was no renal symptoms present in the reported family, which had renal function tests.
Sources: Literature
Created: 6 Apr 2020, 5:20 a.m.

Mode of inheritance
Unknown

Phenotypes
juvenile-onset Parkinson disease

Publications

Created: 6 Apr 2020, 5:20 a.m.

Panel version: 0.28

Details

Mode of Inheritance

Unknown

Sources

Literature

Phenotypes

juvenile-onset Parkinson disease

OMIM

602632

Clinvar variants

Variants in PODXL

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PODXL was added gene: PODXL was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: PODXL was set to Unknown Publications for gene: PODXL were set to 26864383; 20706633 Phenotypes for gene: PODXL were set to juvenile-onset Parkinson disease Review for gene: PODXL was set to AMBER

Early-onset Parkinson disease Gene: PODXL