Adult onset dystonia, chorea or related movement disorder
Gene: PDE10A
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
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
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.
Suggested by Huw and RaquelCreated: 23 Apr 2019, 1:13 p.m.
Tag Q2_21_rating was removed from gene: PDE10A. Tag Q2_21_MOI was removed from gene: PDE10A.
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)
Publications for gene: PDE10A were set to 27058446; 27058447; 28949041; 29130591; 30345538
Publications for gene: PDE10A were set to 27058447; 27058446
Phenotypes for gene: PDE10A were changed from Striatal degeneration, autosomal dominant 616922; Dyskinesia, limb and orofacial, infantile-onset 616921 to Striatal degeneration, autosomal dominant, OMIM:616922; Dyskinesia, limb and orofacial, infantile-onset, OMIM:616921
Tag Q2_21_rating tag was added to gene: PDE10A.
Tag Q2_21_MOI tag was added to gene: PDE10A.
Source NHS GMS was added to PDE10A.
Source London North GLH was added to PDE10A.
gene: PDE10A was added gene: PDE10A was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE10A were set to 27058447; 27058446 Phenotypes for gene: PDE10A were set to Striatal degeneration, autosomal dominant 616922; Dyskinesia, limb and orofacial, infantile-onset 616921