Segmental overgrowth disorders

Gene: PIK3CA

Green List (high 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

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Changed MOI from 'Other' to 'monoallelic' following discussion with clinical team.
Created: 11 Apr 2017, 1:32 p.m.
In a number of patients with CLOVE syndrome (OMIM:612918), Kurek et al., 2012 (PMID:22658544) identified somatic mosaic mutations in the PIK3CA gene (H1047R rs121913279, E542K rs121913273, C420R rs121913272 mutations) in affected tissues. They concluded that CLOVE syndrome is caused by postzygotic activating mutations in PIK3CA. Full details are available on OMIM.

In a number of patients with MCAP (OMIM:602501), mosaic mutations have been found (G914R rs587776932, C378Y rs397514565, H1047Y rs121913281); the C378Y mutation shows varying levels of mosaicsm. Full details are available on OMIM.

Created: 15 Nov 2016, 4:50 p.m.
Comment on list classification: Updated rating from Amber to Green because PIK3CA in original list provided by Richard Scott.
Created: 7 Nov 2016, 2:47 p.m.
CLOVE syndrome can be caused by somatic mosaicism for postzygotic activating mutations in the PIK3CA gene.
Created: 7 Nov 2016, 2:41 p.m.

Mode of inheritance
Other

Mode of pathogenicity
Other

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Phenotypes
Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; MCAP; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; CLOVE syndrome; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Capillary malformation syndrome; Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; CLOVES; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; macrocephaly-capillary malformation (MCM) syndrome

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • UKGTN
  • Emory Genetics Laboratory
  • Expert Review
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501
  • MCAP
  • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918
  • CLOVE syndrome
  • Macrocephaly and Overgrowth Syndromes
  • Megalencephaly-Capillary malformation syndrome
  • Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome
  • CLOVES syndrome
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome
  • CLOVES
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
  • macrocephaly-capillary malformation (MCM) syndrome
Tags
mosaicism
OMIM
171834
Clinvar variants
Variants in PIK3CA
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Apr 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for PIK3CA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Nov 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

17 Nov 2016, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for PIK3CA was changed to Other - please specifiy in evaluation comments

15 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

7 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

7 Nov 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

PIK3CA was added to Regional overgrowth disorderspanel. Source: Other

7 Nov 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

PIK3CA was added to Regional overgrowth disorderspanel. Source: UKGTN

7 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

PIK3CA was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory

7 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PIK3CA was added to Regional overgrowth disorderspanel. Sources: Expert Review

7 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PIK3CA was created by rfoulger