Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: PIK3CA

PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Amber to Green based on expert reviews. This gene is associated with a relevant phenotype in OMIM and Gen2Phenotype.
Created: 16 Apr 2021, 3:29 p.m. | Last Modified: 16 Apr 2021, 3:29 p.m.

Panel Version: 1.110

Created: 16 Apr 2021, 3:29 p.m.
Last Modified: 16 Apr 2021, 3:29 p.m.
Panel version: 1.110

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Somatic variants in this gene cause a range of segmental overgrowth disorders; however, note individuals with germline variants have been reported and have overgrowth.
Created: 4 Jul 2020, 3:41 a.m. | Last Modified: 4 Jul 2020, 3:41 a.m.

Panel Version: 1.94

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cowden syndrome 5, MIM# 615108

Publications

23246288

Created: 4 Jul 2020, 3:41 a.m.
Last Modified: 4 Jul 2020, 3:41 a.m.
Panel version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Review and Green rating from Kate Tatton-Brown April 2017: Activating mutations. We will be reporting variants in clinical practice soon
Created: 31 May 2019, 9:38 a.m.

Recently Human overgrowth syndrome-causing mutations in the gene PIK3CA have been identified. From abstract (unpublished) Tatton-Brown et al (2017)(http://conf.hinxton.wellcome.ac.uk/advancedcourses/GRD2017Abstactbook.pdf) Human overgrowth syndromes (OGID) are a nebulous group of conditions with height and/or head circumference ≥ 2SD above the mean, together with additional phenotypic abnormalities, the commonest of which is intellectual disability. To explore the genetic architecture of human overgrowth syndromes and growth control, we have performed experimental and bioinformatic analyses of 710 individuals with OGID, identifying patients with OGID-causing mutations in genes including NSD1 (240 cases), EZH2 (34 cases), DNMT3A (18 cases), CHD8 (12 cases) and EED (two cases) and HIST1H1E (five cases). Other genes with OGID-causing mutations, identified in the current study, include NFIX (14 cases), GPC3 (two cases) and BRWD3 (seven cases) in addition to the genes encoding components of the PI3K/AKT pathway (PTEN (16 cases); PPP2R5D (three cases); AKT and PIK3CA (one case each).
Created: 31 Mar 2017, 6:11 p.m.

Mode of inheritance
Unknown

Phenotypes
Human overgrowth syndrome type

Created: 31 Mar 2017, 6:11 p.m.

Panel version: 1.72

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Other

Phenotypes

Human overgrowth syndrome type
Overgrowth with Intellectual disability
CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI

OMIM

171834

Clinvar variants

Variants in PIK3CA

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

16 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pik3ca has been classified as Green List (High Evidence).

16 Apr 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PIK3CA were changed from Human overgrowth syndrome type; Overgrowth with Intellectual disability to Human overgrowth syndrome type; Overgrowth with Intellectual disability; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI

16 Apr 2021, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: PIK3CA was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

31 May 2019, Gel status: 2