PanelApp (stage)
  1. Genes and Genomic Entities
  2. PIK3CA

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
OMIM: 171834, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green PIK3CA in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.189

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship

    Green PIK3CA in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.123

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red PIK3CA in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937

    Green PIK3CA in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.140

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PIK3CA in Mendeliome


    Version 1.1891

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501
    • CLAPO syndrome, somatic, MIM# 613089
    • CLOVE syndrome, somatic, MIM# 612918

    Green PIK3CA in Overgrowth


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.12

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cowden syndrome 5, MIM# 615108

    Green PIK3CA in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM# 602501
    Tags
    • somatic

    Green PIK3CA in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.276

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review Other
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Megalencephaly-capillary malformation (MCAP) syndrome , MIM#602501
    Tags
    • somatic

    Green PIK3CA in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501
    Tags
    • somatic

    Green PIK3CA in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PIK3CA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green PIK3CA in Wilms Tumour Predisposition


    Level 2: Cancer predisposition
    Version 0.39

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM# 602501
    Tags
    • somatic

    Red PIK3CA in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review Not set
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • CLOVES 612918

    Green PIK3CA in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.11

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
    • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501
    Tags
    • somatic

    Red PIK3CA in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • NA

    Green PIK3CA in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Cerebral cavernous malformations 4, MIM#619538
    Tags
    • somatic

    Green PIK3CA in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.13

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review Other
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Megalencephaly-capillary malformation (MCAP) syndrome
    • Cowden syndrome 5 615108

    Green PIK3CA in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green PIK3CA in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review 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

    Green PIK3CA in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937

    Red PIK3CA in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • PIK3CA related overgrowth spectrum