Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disordersGene: PIK3CA
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
Cowden syndrome 5, MIM# 615108
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 From abstract (unpublished) Tatton-Brown et al (2017)(http://conf.hinxton.wellcome.ac.uk/advancedcourses/GRD2017Abstactbook.pdf) Human overgrowth syndromes (OGID) are a nebulous group of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
Human overgrowth syndrome type
Gene: pik3ca has been classified as Amber List (Moderate Evidence).
Publications for gene: PIK3CA were set to 28475857
Publications for gene: PIK3CA were set to
Phenotypes for gene: PIK3CA were changed from Human overgrowth syndrome type to Human overgrowth syndrome type; Overgrowth with Intellectual disability
Mode of inheritance for gene: PIK3CA was changed from Unknown to Other
PIK3CA was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Other
PIK3CA was created by LouiseD