PDE10A Chromosome 6
Phosphodiesterase 10A
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What This Gene Does
The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Phosphodiesterases
Locus Type
gene with protein product
Location
6q27
Ensembl
ENSG00000112541
Associated Conditions (7)
Inborn genetic diseases
Infantile-onset generalized dyskinesia with orofacial involvement
Striatal degeneration
autosomal dominant 2
PDE10A-related disorder
Global developmental delay
Generalized hypotonia
Key Variants
RS140135628
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1583275773
Conflicting classifications of pathogenicity
Infantile-onset generalized dyskinesia with orofacial involvement, Striatal degeneration, autosomal dominant 2
Health Risk
RS370604056
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754387675
Conflicting classifications of pathogenicity
PDE10A-related disorder, PDE10A-related disorder
Health Risk
RS1332740547
Likely pathogenic
Infantile-onset generalized dyskinesia with orofacial involvement, Infantile-onset generalized dyskinesia with orofacial involvement
Health Risk
RS2483700484
Likely pathogenic
Infantile-onset generalized dyskinesia with orofacial involvement, Infantile-onset generalized dyskinesia with orofacial involvement
Health Risk
RS2533716846
Likely pathogenic
Infantile-onset generalized dyskinesia with orofacial involvement, Infantile-onset generalized dyskinesia with orofacial involvement
Health Risk
RS2533890060
Likely pathogenic
Health Risk
RS1785445977
Pathogenic
Health Risk
RS875989839
Pathogenic
Infantile-onset generalized dyskinesia with orofacial involvement, Infantile-onset generalized dyskinesia with orofacial involvement
Health Risk
RS875989840
Pathogenic
Striatal degeneration, autosomal dominant 2, Striatal degeneration
Health Risk
RS875989841
Pathogenic
Striatal degeneration, autosomal dominant 2, Striatal degeneration
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140135628 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1583275773 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset generalized dyskinesia with orofacial involvement, Striatal degeneration, autosomal dominant 2 |
| RS370604056 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754387675 | Health Risk | Conflicting classifications of pathogenicity | PDE10A-related disorder, PDE10A-related disorder |
| RS1332740547 | Health Risk | Likely pathogenic | Infantile-onset generalized dyskinesia with orofacial involvement, Infantile-onset generalized dyskinesia with orofacial involvement |
| RS2483700484 | Health Risk | Likely pathogenic | Infantile-onset generalized dyskinesia with orofacial involvement, Infantile-onset generalized dyskinesia with orofacial involvement |
| RS2533716846 | Health Risk | Likely pathogenic | Infantile-onset generalized dyskinesia with orofacial involvement, Infantile-onset generalized dyskinesia with orofacial involvement |
| RS2533890060 | Health Risk | Likely pathogenic | — |
| RS1785445977 | Health Risk | Pathogenic | — |
| RS875989839 | Health Risk | Pathogenic | Infantile-onset generalized dyskinesia with orofacial involvement, Infantile-onset generalized dyskinesia with orofacial involvement |
| RS875989840 | Health Risk | Pathogenic | Striatal degeneration, autosomal dominant 2, Striatal degeneration |
| RS875989841 | Health Risk | Pathogenic | Striatal degeneration, autosomal dominant 2, Striatal degeneration |
| RS1554258695 | Health Risk | Pathogenic/Likely pathogenic | Infantile-onset generalized dyskinesia with orofacial involvement, Striatal degeneration, autosomal dominant 2 |
| RS778899140 | Health Risk | Pathogenic/Likely pathogenic | Infantile-onset generalized dyskinesia with orofacial involvement, Global developmental delay, Generalized hypotonia |