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Intellectual disability

Gene: PDE10A

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Only mild cognitive delay reported in one family. Additional cases with a more significant, or consistent pattern, of DD/ID required to ascertain the contribution of PDE10A variants to an ID phenotype.
Created: 27 Jul 2020, 4:12 p.m. | Last Modified: 27 Jul 2020, 4:12 p.m.
Panel Version: 3.202
PMID: 27058446 (2016) - Eight affected individuals from two unrelated families with homozygous variants (c.320A>G, p.Tyr107Cys and c.346G>C, p.Ala116Pro) in PDE10A, which segregated with the phenotype in each family. In a consanguineous family of Pakistani origin, cognitive performance was preserved in all six affected individuals. In the second family from northern Finland, two affected sibs did present delayed psychomotor development. Mild cognitive delay was noted for both boys; however, the younger brother was said to be more severely affected than his sibling.

Expression studies in HEK293 cells, showed both variants are associated with significant decrease in PDE10A levels compared to controls. While the mouse model recapitulated motor abnormalities, SHIRPA phenotyping did not reveal any behavioural phentotypes in the mice.
Created: 27 Jul 2020, 4:06 p.m. | Last Modified: 27 Jul 2020, 4:06 p.m.
Panel Version: 3.201

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskinesia, limb and orofacial, infantile-onset, 616921

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated families and functional data (animal model). Note that allelic disorder, Striatal degeneration, autosomal dominant, MIM#616922, is caused by heterozygous variants and ID is not part of the phenotype.
Sources: Expert list
Created: 10 Feb 2020, 2:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskinesia, limb and orofacial, infantile-onset, MIM#616921

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

27 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pde10a has been classified as Amber List (Moderate Evidence).

10 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PDE10A was added gene: PDE10A was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE10A were set to 27058446 Phenotypes for gene: PDE10A were set to Dyskinesia, limb and orofacial, infantile-onset, MIM#616921 Review for gene: PDE10A was set to GREEN gene: PDE10A was marked as current diagnostic