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  3. PPP2R1A
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Macrocephaly_Megalencephaly

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, 11:02 a.m. | Last Modified: 24 Jun 2021, 11:02 a.m.
Panel Version: 0.79

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

Created: 24 Jun 2021, 11:02 a.m.
Last Modified: 24 Jun 2021, 11:02 a.m.
Panel version: 0.79

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).

11/29 patients were macrocephalic, conversely 7/29 patients were microcephalic. All variants were in the same region and all were missense.
Sources: Literature
Created: 23 Jun 2021, 11:54 p.m.

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

Phenotypes
Mental retardation, autosomal dominant 36 MIM#616362

Publications

Mode of pathogenicity
Other

Created: 23 Jun 2021, 11:54 p.m.

Panel version: 0.79

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
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
Mode of Pathogenicity
Other
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 Mental retardation, autosomal dominant 36 MIM#616362 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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Jun 2021, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: PPP2R1A was added gene: PPP2R1A was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R1A were set to PMID: 33106617; 26168268 Phenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362 Mode of pathogenicity for gene: PPP2R1A was set to Other Review for gene: PPP2R1A was set to GREEN