Paroxysmal central nervous system disorders

Gene: PDE10A

Green List (high evidence)

PDE10A (phosphodiesterase 10A)
EnsemblGeneIds (GRCh38): ENSG00000112541
EnsemblGeneIds (GRCh37): ENSG00000112541
OMIM: 610652, Gene2Phenotype
PDE10A is in 8 panels

4 reviews

Robyn Labrum (UCLH NHS Trust)

Green List (high evidence)

Infantile-onset limb and orofacial dyskinesia, autosomal recessive.
Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile-onset limb and orofacial dyskinesia

Penny Clouston (Oxford)

Green List (high evidence)

Dyskinesia, limb and orofacial, infantile-onset (OMIM 616921), AR
Created: 23 Sep 2019, 12:51 p.m. | Last Modified: 23 Sep 2019, 12:51 p.m.
Panel Version: 0.95

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskinesia, limb and orofacial, infantile-onset (OMIM 616921)

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Kept rating of PDE10A as Green following Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 23 Sep 2019, 4:08 p.m. | Last Modified: 23 Sep 2019, 4:08 p.m.
Panel Version: 0.103
Comment on mode of inheritance: Set Mode of Inheritance to BIALLELIC to match MOI suggestion from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 23 Sep 2019, 4:06 p.m. | Last Modified: 23 Sep 2019, 4:06 p.m.
Panel Version: 0.101
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.
Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 3:57 p.m.
Panel Version: 0.98
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. This rating is for a gene (PDE10A) previously added to the panel by London North GLH. Suggested rating: Green.
Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26

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

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Dyskinesia, limb and orofacial, infantile-onset, 616921
  • Infantile-onset limb and orofacial dyskinesia
OMIM
610652
Clinvar variants
Variants in PDE10A
Penetrance
None
Panels with this gene

History Filter Activity

24 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

23 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

23 Sep 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PDE10A were changed from to Dyskinesia, limb and orofacial, infantile-onset, 616921; Infantile-onset limb and orofacial dyskinesia

23 Sep 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PDE10A.

2 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: PDE10A was added gene: PDE10A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH Mode of inheritance for gene: PDE10A was set to