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Mosaic skin disorders

Gene: PIK3CA

Green List (high evidence)
PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vascular malformations; PIK3CA-related overgrowth syndromes; CLAPO syndrome, somatic 613089; CLOVE syndrome, somatic 612918; Nevus, epidermal, somatic 162900

Created: 18 Feb 2021, 7:51 a.m.
Last Modified: 18 Feb 2021, 7:51 a.m.
Panel version: 0.9

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Publications

Created: 18 Feb 2021, 6:09 a.m.
Last Modified: 18 Feb 2021, 6:09 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Vascular malformations
  • PIK3CA-related overgrowth syndromes
  • CLAPO syndrome, somatic 613089
  • CLOVE syndrome, somatic 612918
  • Nevus, epidermal, somatic 162900
Tags
somatic
OMIM
171834
Clinvar variants
Variants in PIK3CA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3ca has been classified as Green List (High Evidence).

18 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIK3CA were changed from Vascular malformations; PIK3CA-related overgrowth syndromes to Vascular malformations; PIK3CA-related overgrowth syndromes; CLAPO syndrome, somatic 613089; CLOVE syndrome, somatic 612918; Nevus, epidermal, somatic 162900

18 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: PIK3CA.

18 Feb 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIK3CA was added gene: PIK3CA was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3CA were set to 22499344; 23100325; 22729224; 29446767 Phenotypes for gene: PIK3CA were set to Vascular malformations; PIK3CA-related overgrowth syndromes