Structural basal ganglia disorders
Gene: PDE10A

PDE10A (phosphodiesterase 10A)
EnsemblGeneIds (GRCh38): ENSG00000112541
EnsemblGeneIds (GRCh37): ENSG00000112541
OMIM: 610652, Gene2Phenotype
PDE10A is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed G2P for Striatal degeneration, autosomal dominant 616922. At least 2 homozygous variants reported in two families with Dyskinesia, limb and orofacial, infantile-onset 616921 together with supporting in vitro evidence (pmid ). At least 2 variants reported 3 cases of Striatal degeneration, autosomal dominant 616922 together with supporting in vitro evidence (pmid 27058447)
Created: 6 Mar 2017, 10:45 a.m.

Comment on mode of inheritance: Dyskinesia, limb and orofacial, infantile-onset 616921 is biallelic, Striatal degeneration, autosomal dominant 616922 is monoallelic
Created: 6 Mar 2017, 10:42 a.m.

Created: 6 Mar 2017, 10:42 a.m.

Panel version: 0.104

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 1 Mar 2017, 1:57 p.m.

Panel version: 0.5

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 19 Jan 2017, 2:28 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other

Phenotypes

Dyskinesia, limb and orofacial, infantile-onset 616921
Striatal degeneration, autosomal dominant 616922

OMIM

610652

Clinvar variants

Variants in PDE10A

Penetrance

Complete

Publications

Panels with this gene