Cerebral Palsy
Gene: PDE10AEnsemblGeneIds (GRCh38): ENSG00000112541
EnsemblGeneIds (GRCh37): ENSG00000112541
OMIM: 610652, Gene2Phenotype
PDE10A is in 5 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with de novo frameshift deletion described in WGS study of clinically confirmed CP (PMID: 38553553).
Biallelic variants have been reported to cause a hyperkinetic movement disorder with onset in infancy (PMID: 27058446).
Sources: LiteratureCreated: 27 Jun 2024, 4:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskinesia, limb and orofacial, infantile-onset, autosomal recessive, MIM#616921; Striatal degeneration, autosomal dominant, MIM#616922
Publications
- PMID: 38553553
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dyskinesia, limb and orofacial, infantile-onset, autosomal recessive, MIM#616921
- Striatal degeneration, autosomal dominant, MIM#616922
- OMIM
- 610652
- Clinvar variants
- Variants in PDE10A
- Penetrance
- None
- Publications
-
- PMID: 38553553
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pde10a has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pde10a has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: PDE10A was added gene: PDE10A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PDE10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PDE10A were set to PMID: 38553553 Phenotypes for gene: PDE10A were set to Dyskinesia, limb and orofacial, infantile-onset, autosomal recessive, MIM#616921; Striatal degeneration, autosomal dominant, MIM#616922 Review for gene: PDE10A was set to RED