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  2. Dystonia - isolated/combined
  3. PDE10A
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Dystonia - isolated/combined

Gene: PDE10A

Green List (high evidence)
PDE10A (phosphodiesterase 10A)
EnsemblGeneIds (GRCh38): ENSG00000112541
EnsemblGeneIds (GRCh37): ENSG00000112541
OMIM: 610652, Gene2Phenotype
PDE10A is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Include due to phenotypic overlap.
Created: 9 Sep 2020, 5:24 a.m. | Last Modified: 9 Sep 2020, 5:24 a.m.
Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early onset chorea without epilepsy; infantile onset limb and orofacial dyskinesia (OMIM 616921)

Publications

Created: 9 Sep 2020, 5:24 a.m.
Last Modified: 9 Sep 2020, 5:24 a.m.
Panel version: 0.18

Eunice Chan (Royal Children's Hospital)

Due to marked fluctuations in movement disorder that can be seen ?consider adding to PxD panel also
Created: 9 Sep 2020, 3:54 a.m. | Last Modified: 9 Sep 2020, 3:54 a.m.
Panel Version: 0.17
Generalised dyskinesia (chorea, ballismus, orolingual dyskinesia), axial hypotonia, dysarthria
Bilateral striatal lesions on MRI
Sources: Expert list
Created: 9 Sep 2020, 2:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early onset chorea without epilepsy; infantile onset limb and orofacial dyskinesia (OMIM 616921)

Publications

Created: 9 Sep 2020, 2:47 a.m.

Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Early onset chorea without epilepsy
  • infantile onset limb and orofacial dyskinesia (OMIM 616921)
OMIM
610652
Clinvar variants
Variants in PDE10A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde10a has been classified as Green List (High Evidence).

9 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde10a has been classified as Green List (High Evidence).

9 Sep 2020, Gel status: 0

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

Eunice Chan (Royal Children's Hospital)

gene: PDE10A was added gene: PDE10A was added to Dystonia - isolated/combined. Sources: Expert list Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE10A were set to PMID 27058447 Phenotypes for gene: PDE10A were set to Early onset chorea without epilepsy; infantile onset limb and orofacial dyskinesia (OMIM 616921)