Cerebral vascular malformations
Gene: PIK3R2EnsemblGeneIds (GRCh38): ENSG00000105647
EnsemblGeneIds (GRCh37): ENSG00000105647
OMIM: 603157, Gene2Phenotype
PIK3R2 is in 12 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 12:01 p.m.
Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, noon
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 603157
- Clinvar variants
- Variants in PIK3R2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to PIK3R2.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PIK3R2.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Created
Ellen McDonagh (Genomics England Curator)PIK3R2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)PIK3R2 was added to Cerebrovascular disorderspanel. Sources: UKGTN