Cerebral vascular malformations

Gene: PIK3CA

Red List (low 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)

In 34 (39%) of 88 sporadic CCM samples, Peyre et al. (2021) identified 1 of 3 somatic missense mutations in the PIK3CA gene (H1047R; H1047L; E542K).
Created: 11 Oct 2021, 10:01 a.m. | Last Modified: 11 Oct 2021, 10:01 a.m.
Panel Version: 2.58

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral cavernous malformations 4, MIM#619538

Publications

Alice Gardham (Genomics England)

I don't know

Comment on list classification: Cerebral vascular anomalies not prominent feature -vascular lesions are found elsewhere, particularly skin
Created: 12 Dec 2016, 10:54 a.m.

Details

Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Other
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501
  • Cerebral Malformation Disorders
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
OMIM
171834
Clinvar variants
Variants in PIK3CA
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PIK3CA.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PIK3CA.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

9 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PIK3CA was added to Cerebrovascular disorderspanel. Source: Other

9 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PIK3CA was added to Cerebrovascular disorderspanel. Source: UKGTN

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PIK3CA was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PIK3CA was created by ellenmcdonagh