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Intellectual disability

Gene: PDE10A

No list

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

1 review

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
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

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