Callosome
Gene: PPP2R1A

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Intellectual disability with variable other features, including CC abnormalities and microcephaly/macrocephaly.

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: 24 Jun 2021, 11:12 a.m. | Last Modified: 24 Jun 2021, 11:12 a.m.

Panel Version: 0.299

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

Publications

Created: 24 Jun 2021, 11:12 a.m.
Last Modified: 24 Jun 2021, 11:12 a.m.
Panel version: 0.299

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