Cerebral vascular malformations
Gene: PIK3CA
Somatic PIK3CA variants are associated with Cerebral cavernous malformations 4, somatic, OMIM:619538. At least three somatic PIK3CA variants have been reported (PMID: 34496175).Created: 22 Aug 2023, 3:32 p.m. | Last Modified: 22 Aug 2023, 3:32 p.m.
Panel Version: 3.5
Comment on mode of inheritance: Somatic PIK3CA variant are associated with Cerebral cavernous malformations 4, somatic, OMIM:619538.Created: 22 Aug 2023, 3:24 p.m. | Last Modified: 22 Aug 2023, 3:24 p.m.
Panel Version: 3.5
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
Comment on list classification: Cerebral vascular anomalies not prominent feature -vascular lesions are found elsewhere, particularly skinCreated: 12 Dec 2016, 10:54 a.m.
Mode of inheritance for gene: PIK3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Tag somatic tag was added to gene: PIK3CA.
Phenotypes for gene: PIK3CA were changed from 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 to Cerebral cavernous malformations 4, somatic, OMIM:619538
Publications for gene: PIK3CA were set to
Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source Yorkshire and North East GLH was added to PIK3CA.
Source NHS GMS was added to PIK3CA.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
PIK3CA was added to Cerebrovascular disorderspanel. Source: Other
PIK3CA was added to Cerebrovascular disorderspanel. Source: UKGTN
PIK3CA was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
PIK3CA was created by ellenmcdonagh