Vascular skin disorders
Gene: PIK3CAEnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
2 reviews
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PIK3CA; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 12:05 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- PIK3CA-related overgrowth syndromes
- Vascular malformation, MONDO:0024291
- CLAPO syndrome, somatic, OMIM:613089
- Nevus, epidermal, somatic mosaic, OMIM:162900
- CLOVE syndrome, somatic, OMIM:612918
- Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Segmental overgrowth disorders - Deep sequencing
- Early onset or syndromic epilepsy
- Cerebral vascular malformations
- Neurological segmental overgrowth
- Fetal anomalies
- Genodermatoses with malignancies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Mosaic skin disorders - Deep sequencing
- Hydrocephalus
- Familial Neural Tube Defects
- Intellectual disability
- Hereditary haemorrhagic telangiectasia
- Limb disorders
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- DDG2P
- Pigmentary skin disorders
- Malformations of cortical development
- Vascular skin disorders
History Filter Activity
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: PIK3CA were changed from PIK3CA-related overgrowth syndromes; Vascular malformation, MONDO:0024291 to PIK3CA-related overgrowth syndromes; Vascular malformation, MONDO:0024291; CLAPO syndrome, somatic, OMIM:613089; Nevus, epidermal, somatic mosaic, OMIM:162900; CLOVE syndrome, somatic, OMIM:612918; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PIK3CA were changed from PIK3CA-related overgrowth syndromes; Vascular malformations to PIK3CA-related overgrowth syndromes; Vascular malformation, MONDO:0024291
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PIK3CA were set to
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PIK3CA.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PIK3CA was added gene: PIK3CA was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations