Activity

Filter

Cancel
Date Panel Item Activity
13 actions
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
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.
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
Cerebral vascular malformations v3.4 PIK3CA Sarah Leigh Tag somatic tag was added to gene: PIK3CA.
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
Cerebral vascular malformations v3.3 PIK3CA Sarah Leigh Publications for gene: PIK3CA were set to
Cerebral vascular malformations v3.2 PIK3CA Sarah Leigh Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Cerebral vascular malformations v1.67 PIK3CA Louise Daugherty Source Yorkshire and North East GLH was added to PIK3CA.
Cerebral vascular malformations v1.65 PIK3CA Louise Daugherty Source NHS GMS was added to PIK3CA.
Cerebral vascular malformations PIK3CA Alice Gardham marked PIK3CA as ready
Cerebral vascular malformations PIK3CA Alice Gardham classified PIK3CA as red
Cerebral vascular malformations PIK3CA Alice Gardham reviewed PIK3CA