Structural basal ganglia disorders
Gene: PDE10AComment when marking as ready: Associated with phenotypes in OMIM and as a confirmed G2P for Striatal degeneration, autosomal dominant 616922. At least 2 homozygous variants reported in two families with Dyskinesia, limb and orofacial, infantile-onset 616921 together with supporting in vitro evidence (pmid ). At least 2 variants reported 3 cases of Striatal degeneration, autosomal dominant 616922 together with supporting in vitro evidence (pmid 27058447)Created: 6 Mar 2017, 10:45 a.m.
Comment on mode of inheritance: Dyskinesia, limb and orofacial, infantile-onset 616921 is biallelic, Striatal degeneration, autosomal dominant 616922 is monoallelicCreated: 6 Mar 2017, 10:42 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
promoted 16/03/2017
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PDE10A was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for PDE10A were set to Dyskinesia, limb and orofacial, infantile-onset 616921; Striatal degeneration, autosomal dominant 616922
Publications for PDE10A were set to 27058446;27058447
Mode of inheritance for PDE10A was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PDE10A was created by sleigh
PDE10A was added to Structural basal ganglia disorderspanel. Sources: Other