Adult onset dystonia, chorea or related movement disorder
Gene: PPP2R5DEnsemblGeneIds (GRCh38): ENSG00000112640
EnsemblGeneIds (GRCh37): ENSG00000112640
OMIM: 601646, Gene2Phenotype
PPP2R5D is in 6 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mental retardation, autosomal dominant 35 OMIM:616355
- intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602
- OMIM
- 601646
- Clinvar variants
- Variants in PPP2R5D
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_phenotype was removed from gene: PPP2R5D.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to PPP2R5D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ppp2r5d has been classified as Amber List (Moderate Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_phenotype tag was added to gene: PPP2R5D.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PPP2R5D were set to 33338668; 32743835
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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