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Severe Paediatric Disorders

Gene: PDE10A

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PDE10A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Dyskinesia, limb and orofacial, infantile-onset, 616921 (3) | Striatal degeneration, autosomal dominant, 616922 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Dyskinesia, limb and orofacial, infantile-onset, 616921
  • Striatal degeneration, autosomal dominant, 616922
OMIM
610652
Clinvar variants
Variants in PDE10A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene