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Fetal anomalies

Gene: PPP2CA

Green List (high evidence)
PPP2CA (protein phosphatase 2 catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000113575
EnsemblGeneIds (GRCh37): ENSG00000113575
OMIM: 176915, Gene2Phenotype
PPP2CA is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green on 3 other panels; PMID:3059537216 - patients all de novo. Mainly ID & epilepsy condition - not on epilepsy panel yet. Brain abnormalities such as ventriculomegaly and a small corpus callosum (67%). Brain imaging was performed in 15 individuals and showed dilated ventricles (4/15), delayed myelination (2/15), and dysplasia or absence of the corpus callosum (4/15). Two individuals had macrocephaly, one of whom was also tall, and five individuals had microcephaly. Congenital heart defects, the last of which included a muscular ventricular septal defect, atrial septal defect, and trileaflet aortic valve in three separate individuals. Some evidence of prenatal presentation but not all patients. Green
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354
OMIM
176915
Clinvar variants
Variants in PPP2CA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: PPP2CA. Tag Q3_24_NHS_review was removed from gene: PPP2CA.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PPP2CA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: PPP2CA. Tag Q3_24_NHS_review tag was added to gene: PPP2CA.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PPP2CA was added gene: PPP2CA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2CA were set to 30595372 Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354