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Cerebral Palsy v1.354 | PDE10A | Zornitza Stark Marked gene: PDE10A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.354 | PDE10A | Zornitza Stark Gene: pde10a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.354 | PDE10A | Zornitza Stark Classified gene: PDE10A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.354 | PDE10A | Zornitza Stark Gene: pde10a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.348 | PDE10A |
Clare van Eyk 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 Added comment: 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: Literature |