Dystonia - isolated/combined
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)

Red List (low evidence)

Single consanguineous Indian family reported with a homozygous loss of function variant. Dystonia reported in three affected siblings. There is high evidence that both monoallelic and biallelic variants cause FSGS.
Sources: Expert list
Created: 6 Apr 2020, 5:06 a.m. | Last Modified: 6 Apr 2020, 5:30 a.m.

Panel Version: 0.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
juvenile-onset Parkinson disease

Publications

26864383

Created: 6 Apr 2020, 5:06 a.m.
Last Modified: 6 Apr 2020, 5:30 a.m.
Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

juvenile-onset Parkinson disease

OMIM

602632

Clinvar variants

Variants in PODXL

Penetrance

None

Publications

26864383

Panels with this gene

History Filter Activity

29 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: podxl has been classified as Red List (Low Evidence).

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 Dystonia - isolated/combined. Sources: Expert list Mode of inheritance for gene: PODXL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PODXL were set to 26864383 Phenotypes for gene: PODXL were set to juvenile-onset Parkinson disease Review for gene: PODXL was set to RED

Dystonia - isolated/combined Gene: PODXL