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Mendeliome

Gene: PPP2R1A

Green List (high evidence)

PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha)
EnsemblGeneIds (GRCh38): ENSG00000105568
EnsemblGeneIds (GRCh37): ENSG00000105568
OMIM: 605983, Gene2Phenotype
PPP2R1A is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Intellectual disability with variable other features, including CC abnormalities and microcephaly/macrocephaly.
Created: 24 Jun 2021, 11 a.m. | Last Modified: 24 Jun 2021, 11:03 a.m.
Panel Version: 0.8106

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617).

Established functional domains/hotspots: Heat repeats (approx. aa 160-235) (Decipher).
Created: 23 Jun 2021, 11:52 p.m. | Last Modified: 23 Jun 2021, 11:52 p.m.
Panel Version: 0.8100

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 36 MIM#616362

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 36, MIM#616362
  • Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
OMIM
605983
Clinvar variants
Variants in PPP2R1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp2r1a has been classified as Green List (High Evidence).

24 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPP2R1A were changed from to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605

24 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPP2R1A were set to

24 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PPP2R1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPP2R1A was added gene: PPP2R1A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPP2R1A was set to Unknown