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

Gene: PIK3CA

Amber List (moderate evidence)

PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 22 panels

2 reviews

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

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 From abstract (unpublished) Tatton-Brown et al (2017)(http://conf.hinxton.wellcome.ac.uk/advancedcourses/GRD2017Abstactbook.pdf) Human overgrowth syndromes (OGID) are a nebulous group of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

History Filter Activity

31 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pik3ca has been classified as Amber List (Moderate Evidence).

31 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PIK3CA were set to 28475857

31 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PIK3CA were set to

31 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PIK3CA were changed from Human overgrowth syndrome type to Human overgrowth syndrome type; Overgrowth with Intellectual disability

31 May 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PIK3CA was changed from Unknown to Other

31 Mar 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PIK3CA was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Other

31 Mar 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PIK3CA was created by LouiseD