Early-onset Parkinson disease
Gene: PDE8BEnsemblGeneIds (GRCh38): ENSG00000113231
EnsemblGeneIds (GRCh37): ENSG00000113231
OMIM: 603390, Gene2Phenotype
PDE8B is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Movement disorder due to basal ganglia abnormalities, at least three families reported with heterozygous variants in this gene.
Sources: Expert ReviewCreated: 24 Nov 2019, 6:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Striatal degeneration, autosomal dominant, MIM#609161
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Striatal degeneration, autosomal dominant, MIM#609161
- OMIM
- 603390
- Clinvar variants
- Variants in PDE8B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pde8b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pde8b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PDE8B was added gene: PDE8B was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review 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