Neurodegenerative disorders, adult onset
Gene: PDE8B

PDE8B (phosphodiesterase 8B)
EnsemblGeneIds (GRCh38): ENSG00000113231
EnsemblGeneIds (GRCh37): ENSG00000113231
OMIM: 603390, Gene2Phenotype
PDE8B is in 3 panels

1 review

Rhys Dore (Guy's and St Thomas' NHS Foundation Trust)

Green List (high evidence)

Four families with consistent clinical features of adult onset striatal degeneration and features of Parkinsonism with concomitant predicted loss of function heterozygous variants in PDE8B. A fifth family with a pLOF variant and similar striatal degeneration, but with tremor and dystonia.
Sources: Research
Created: 15 Sep 2026, 1:59 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
striatal degeneration; Parkinsonism; bradykinesia, rigidity; dysarthria

Publications

Created: 15 Sep 2026, 1:59 p.m.

Panel version: 9.15

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Phenotypes

striatal degeneration
Parkinsonism
bradykinesia, rigidity
dysarthria

OMIM

603390

Clinvar variants

Variants in PDE8B

Penetrance

unknown

Publications

Panels with this gene

History Filter Activity

15 Sep 2026, Gel status: 0

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

Rhys Dore (Guy's and St Thomas' NHS Foundation Trust)

gene: PDE8B was added gene: PDE8B was added to Neurodegenerative disorders, adult onset. Sources: Research Mode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDE8B were set to PMID: 20085714, 26475694; 26769607; 31726290; 34022587 Phenotypes for gene: PDE8B were set to striatal degeneration; Parkinsonism; bradykinesia, rigidity; dysarthria Penetrance for gene: PDE8B were set to unknown Review for gene: PDE8B was set to GREEN

Neurodegenerative disorders, adult onset Gene: PDE8B