Cerebral vascular malformations
Gene: PIK3CAEnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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)
Comment on list classification: Cerebral vascular anomalies not prominent feature -vascular lesions are found elsewhere, particularly skinCreated: 12 Dec 2016, 10:54 a.m.
Details
- Mode of Inheritance
- Other
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Other
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cerebral cavernous malformations 4, somatic, OMIM:619538
- Tags
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb disorders
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- DDG2P
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Malformations of cortical development
- Familial Neural Tube Defects
- Hydrocephalus
- Segmental overgrowth disorders - Deep sequencing
- Childhood solid tumours
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Neurological segmental overgrowth
- Hereditary haemorrhagic telangiectasia
- Intellectual disability
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PIK3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Added Tag
Sarah Leigh (Genomics England Curator)Tag somatic tag was added to gene: PIK3CA.
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PIK3CA were set to
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to PIK3CA.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PIK3CA.
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).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PIK3CA was added to Cerebrovascular disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)PIK3CA was added to Cerebrovascular disorderspanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)PIK3CA was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)PIK3CA was created by ellenmcdonagh