22 Aug 2023
Cerebral vascular malformations v3.5
PIK3CA
Sarah Leigh edited their review of gene: PIK3CA: Added comment: Somatic PIK3CA variants are associated with Cerebral cavernous malformations 4, somatic, OMIM:619538. At least three somatic PIK3CA variants have been reported (PMID: 34496175).; Changed rating: RED
22 Aug 2023
Cerebral vascular malformations v3.5
PIK3CA
Sarah Leigh Added comment: Comment on mode of inheritance: Somatic PIK3CA variant are associated with Cerebral cavernous malformations 4, somatic, OMIM:619538.
22 Aug 2023
Cerebral vascular malformations v3.5
PIK3CA
Sarah Leigh Mode of inheritance for gene: PIK3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
22 Aug 2023
Cerebral vascular malformations v3.4
PIK3CA
Sarah Leigh Tag somatic tag was added to gene: PIK3CA.
22 Aug 2023
Cerebral vascular malformations v3.4
PIK3CA
Sarah Leigh 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
22 Aug 2023
Cerebral vascular malformations v3.3
PIK3CA
Sarah Leigh Publications for gene: PIK3CA were set to
22 Aug 2023
Cerebral vascular malformations v3.2
PIK3CA
Sarah Leigh Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2021
Cerebral vascular malformations v2.58
PIK3CA
Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34496175; Phenotypes: Cerebral cavernous malformations 4, MIM#619538; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Nov 2019
Cerebral vascular malformations v1.67
PIK3CA
Louise Daugherty Source Yorkshire and North East GLH was added to PIK3CA.
29 Nov 2019
Cerebral vascular malformations v1.65
PIK3CA
Louise Daugherty Source NHS GMS was added to PIK3CA.
12 Dec 2016
Cerebral vascular malformations
PIK3CA
Alice Gardham marked PIK3CA as ready
12 Dec 2016
Cerebral vascular malformations
PIK3CA
Alice Gardham classified PIK3CA as red
12 Dec 2016
Cerebral vascular malformations
PIK3CA
Alice Gardham reviewed PIK3CA