Adult onset dystonia, chorea or related movement disorder
Gene: PPP2R5D
The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.Created: 11 Mar 2022, 1:37 p.m. | Last Modified: 11 Mar 2022, 1:37 p.m.
Panel Version: 1.166
Associated with OMIM 616355 and as confirmed Gen2Phen gene for intellectual disability. Early-onset Parkinsonism has recently been associated with two PPP2R5D variants in four unrelated cases (NM_006245.3: c.592G > A, p.Glu198Lys (one case) c.598G>A, p.Glu200Lys (four cases)).Created: 18 Feb 2021, 2:19 p.m. | Last Modified: 18 Feb 2021, 2:20 p.m.
Panel Version: 1.19
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 18 Feb 2021, 2:02 p.m. | Last Modified: 18 Feb 2021, 2:02 p.m.
Panel Version: 1.19
5 individuals reported with de novo missense variants in this gene, a neurodevelopmental disorder, and onset of parkinsonism between the ages of 20-40 years. Four had the same p.(Glu200Lys) variant, and the fifth had p.(Glu198Lys)
Sources: LiteratureCreated: 16 Jan 2021, 4:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM# 616355
Publications
Tag Q2_21_phenotype was removed from gene: PPP2R5D.
Source Expert Review Green was added to PPP2R5D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: PPP2R5D were changed from Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM# 616355 to Mental retardation, autosomal dominant 35 OMIM:616355; intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602
Gene: ppp2r5d has been classified as Amber List (Moderate Evidence).
Tag Q2_21_phenotype tag was added to gene: PPP2R5D.
Publications for gene: PPP2R5D were set to 33338668; 32743835
gene: PPP2R5D was added gene: PPP2R5D was added to Adult onset movement disorder. Sources: Literature Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R5D were set to 33338668; 32743835 Phenotypes for gene: PPP2R5D were set to Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM# 616355 Review for gene: PPP2R5D was set to GREEN