Adult onset dystonia, chorea or related movement disorder
Gene: PDE10A

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

4 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to red and the mode of inheritance updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 3:01 p.m. | Last Modified: 30 Jan 2023, 3:01 p.m.

Panel Version: 2.7

Created: 30 Jan 2023, 3:01 p.m.
Last Modified: 30 Jan 2023, 3:01 p.m.
Panel version: 2.7

Arina Puzriakova (Genomics England Curator)

PDE10A has been implicated in early-onset, rather than adult-onset, non-progressive hyperkinetic movement disorders. Biallelic variants are associated with an infantile-onset movement disorder (MIM# 616921) while monoallelic variants cause childhood-onset (reported ages between 5 and 10 yrs) chorea and striatal abnormalities (MIM# 616922).

This gene should therefore be demoted from Green to Red, and the MOI on this panel should be changed from 'BIALLELIC' to 'BOTH monoallelic and biallelic' at the next review.
Created: 29 Mar 2021, 1:05 p.m. | Last Modified: 29 Mar 2021, 1:05 p.m.

Panel Version: 1.61

Created: 29 Mar 2021, 1:05 p.m.
Last Modified: 29 Mar 2021, 1:05 p.m.
Panel version: 1.61

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.

Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.54

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Suggested by Huw and Raquel
Created: 23 Apr 2019, 1:13 p.m.

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
NHS GMS
London North GLH

Phenotypes

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

OMIM

610652

Clinvar variants

Variants in PDE10A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 1

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: PDE10A. Tag Q2_21_MOI was removed from gene: PDE10A.

30 Jan 2023, Gel status: 1

Added New Source, Set mode of inheritance, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to PDE10A. Mode of inheritance for gene PDE10A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rating Changed from Green List (high evidence) to Red List (low evidence)

29 Mar 2021, Gel status: 3