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Early-onset Parkinson disease

Gene: PPP2R5D

Green List (high evidence)
PPP2R5D (protein phosphatase 2 regulatory subunit B'delta)
EnsemblGeneIds (GRCh38): ENSG00000112640
EnsemblGeneIds (GRCh37): ENSG00000112640
OMIM: 601646, Gene2Phenotype
PPP2R5D is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: Literature
Created: 16 Jan 2021, 4:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM# 616355

Publications

Created: 16 Jan 2021, 4:29 a.m.

Panel version: 0.95

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Early onset Parkinsonism
  • Houge-Janssens syndrome 1, MIM#616355
OMIM
601646
Clinvar variants
Variants in PPP2R5D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PPP2R5D were changed from Early onset Parkinsonism; Houge-Janssens syndrome 1, MIM#616355 to Early onset Parkinsonism; Houge-Janssens syndrome 1, MIM#616355

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: PPP2R5D were changed from Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM# 616355 to Early onset Parkinsonism; Houge-Janssens syndrome 1, MIM#616355

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp2r5d has been classified as Green List (High Evidence).

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp2r5d has been classified as Green List (High Evidence).

16 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPP2R5D was added gene: PPP2R5D was added to Early-onset Parkinson disease. 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