Parkinson Disease and Complex Parkinsonism
Gene: PDE8B

PDE8B (phosphodiesterase 8B)
EnsemblGeneIds (GRCh38): ENSG00000113231
EnsemblGeneIds (GRCh37): ENSG00000113231
OMIM: 603390, Gene2Phenotype
PDE8B is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Movement disorder due to basal ganglia abnormalities, at least three families reported with heterozygous variants in this gene.
Sources: Expert list
Created: 22 Sep 2020, 11:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Striatal degeneration, autosomal dominant, MIM#609161

Publications

Created: 22 Sep 2020, 11:26 p.m.

Panel version: 1.68

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

Striatal degeneration, autosomal dominant, MIM#609161

OMIM

603390

Clinvar variants

Variants in PDE8B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

22 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PDE8B was added gene: PDE8B was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE8B were set to 20085714; 26769607; 26475694 Phenotypes for gene: PDE8B were set to Striatal degeneration, autosomal dominant, MIM#609161 Review for gene: PDE8B was set to GREEN

Parkinson Disease and Complex Parkinsonism Gene: PDE8B