Structural basal ganglia disorders

Gene: PDE10A

Green List (high evidence)

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.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PDE10A was changed to BIALLELIC, autosomal or pseudoautosomal

6 Mar 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PDE10A were set to Dyskinesia, limb and orofacial, infantile-onset 616921; Striatal degeneration, autosomal dominant 616922

6 Mar 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PDE10A were set to 27058446;27058447

6 Mar 2017, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PDE10A was changed to BIALLELIC, autosomal or pseudoautosomal

7 Sep 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PDE10A was created by sleigh

7 Sep 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

PDE10A was added to Structural basal ganglia disorderspanel. Sources: Other