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Intellectual disability

Gene: PPP3CA

Green List (high evidence)

PPP3CA (protein phosphatase 3 catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000138814
EnsemblGeneIds (GRCh37): ENSG00000138814
OMIM: 114105, Gene2Phenotype
PPP3CA is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. PPP3CA is associated with Epileptic encephalopathy, infantile or early childhood, 1 in OMIM and is probably associated with Severe Neurodevelopmental Disease with Seizures
Page navigation in Gene2Phenotype. PMID: 28942967 reported on 6 unrelated individuals from different ethnic backgrounds who have different PPP3CA variants (missense and nonsense) who have severe ID. Therefore, there is enough evidence to promote this gene to green status.
Created: 1 Jul 2019, 9:58 a.m. | Last Modified: 1 Jul 2019, 9:58 a.m.
Panel Version: 2.920

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six individuals from unrelated families reported with de novo variants in this gene, ID is part of the phenotype.
Created: 22 Jun 2018, 2:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, infantile or early childhood, 1

Publications

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
  • Epileptic encephalopathy, infantile or early childhood, 1, 617711
OMIM
114105
Clinvar variants
Variants in PPP3CA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ppp3ca has been classified as Green List (High Evidence).

1 Jul 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PPP3CA were changed from Epileptic encephalopathy, infantile or early childhood, 1 to Epileptic encephalopathy, infantile or early childhood, 1, 617711

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PPP3CA.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

PPP3CA was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

PPP3CA was created by Zornitza Stark