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
Red PIK3CA in Familial Neural Tube Defects


Version 1.11

review Not set
Sources
  • Other
  • UKGTN
Phenotypes
  • Clove Syndrome
  • Cloves syndrome
Red PIK3CA in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Cowden syndrome 5 615108
Red PIK3CA in Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • One publication showing mutations in Cowden. Await confirmation.
Red PIK3CA in Cerebral vascular malformations


Level 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review 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
  • somatic
Green PIK3CA in Hydrocephalus


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Tags
  • somatic
Green PIK3CA in Segmental overgrowth disorders - Deep sequencing


Level 2: Dermatology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • UKGTN
  • Emory Genetics Laboratory
  • Expert Review
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501
  • MCAP
  • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918
  • CLOVE syndrome
  • Macrocephaly and Overgrowth Syndromes
  • Megalencephaly-Capillary malformation syndrome
  • Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome
  • CLOVES syndrome
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome
  • CLOVES
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
  • macrocephaly-capillary malformation (MCM) syndrome
Tags
  • mosaicism
Red PIK3CA in Hereditary haemorrhagic telangiectasia


Level 2: Respiratory
Version 3.7
Latest signed off version: v3.0 (30 Nov 2022)

review Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Red PIK3CA in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • 1 report of several families in PTEN-negative Cowden
Green PIK3CA in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Macrodactyly, somatic 155500
    • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
    • CLOVE syndrome, somatic 612918
    • Polydactyly
    • CLAPO syndrome, somatic 613089
    Tags
    • mosaicism
    • somatic
    Green PIK3CA in Pigmentary skin disorders


    Level 2: Dermatology
    Version 4.13
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • MCAP
    • PIK3CA-related overgrowth syndromes
    • MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME
    • Vascular malformations
    Green PIK3CA in Malformations of cortical development


    Level 2: Neurology
    Version 7.30
    Latest signed off version: v7.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Expert Review
    Phenotypes
    • Polymicrogyria, hemimegalencephaly, macrocephaly
    Green PIK3CA in Mosaic skin disorders - deep sequencing


    Level 2: Dermatology
    Version 3.27
    Latest signed off version: v3.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • PIK3CA-related overgrowth syndromes
    • Vascular malformations
    Green PIK3CA in Vascular skin disorders


    Level 2: Dermatology
    Version 2.5
    Latest signed off version: v2.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • PIK3CA-related overgrowth syndromes
    • Vascular malformation, MONDO:0024291
    No list PIK3CA in Multiple monogenic benign skin tumours


    Level 2: Dermatology
    Version 2.5
    Latest signed off version: v2.0 (30 Nov 2022)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Vascular malformations
    • PIK3CA-related overgrowth syndromes
    Tags
    • curated_removed
    Red PIK3CA in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • NHS GMS
    Phenotypes
    • CLOVES 612918
    Green PIK3CA in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

    Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
    Level 2: Growth disorders
    Version 1.121

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Human overgrowth syndrome type
    • Overgrowth with Intellectual disability
    • CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
    Green PIK3CA in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3
    • CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
    • HEMIMEGALENCEPHALY PIK3CA
    Tags
    • mosaicism
    Green PIK3CA in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PIK3CA-related overgrowth spectrum disorder with or without megalencephaly, capillary malformation, polymicrogyria and lipomatous overgrowth
    Tags
    • mosaicism
    Red PIK3CA in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
    Tags
    • somatic
    • mosaicism
    Green PIK3CA in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501
    • Megalencephaly-capillary malformation-polymicrogyria syndrome, Orphanet:60040
    Tags
    • mosaicism
    • somatic
    Green PIK3CA in Neurological segmental overgrowth


    Level 2: Neurology
    Version 3.3
    Latest signed off version: v3.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Cowden syndrome 5, OMIM:615108
    • CLAPO syndrome, somatic, OMIM:613089
    • CLOVE syndrome, somatic, OMIM:612918
    • Macrodactyly, somatic, OMIM:155500
    • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
    Tags
    • mosaicism
    • somatic