PIK3CA

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

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Red PIK3CA in Familial Neural Tube Defects


Version 1.10

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 1.5

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 1.6

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 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.8
Latest signed off version: v2.2 (2 Mar 2020)

review Not set
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Other
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 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

Green PIK3CA in Hydrocephalus


Version 2.11
Latest signed off version: v2.3 (2 Mar 2020)

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 602501
Tags
  • somatic

Green PIK3CA in Segmental overgrowth disorders


Version 2.10
Latest signed off version: v2.1 (24 Feb 2020)

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 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 2.6
Latest signed off version: v2.2 (2 Mar 2020)

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

Red PIK3CA in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.17
Latest signed off version: v2.5 (4 Mar 2020)

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


Version 2.39
Latest signed off version: v2.2 (13 Feb 2020)

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


    Version 1.9
    Latest signed off version: v1.4 (15 Oct 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.44
    Latest signed off version: v2.2 (25 Feb 2020)

    Component of the following Super Panels:

  • Cerebral malformations
  • 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


    Version 1.5
    Latest signed off version: v1.3 (15 Oct 2020)

    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


    Version 1.47
    Latest signed off version: v1.3 (15 Oct 2020)

    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


    Version 1.12
    Latest signed off version: v1.3 (15 Oct 2020)

    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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.85
    Latest signed off version: v2.84 (16 Dec 2021)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • NHS GMS
    Phenotypes
    • CLOVES 612918

    Amber 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 1.103

    review Other
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Human overgrowth syndrome type
    • Overgrowth with Intellectual disability

    Green PIK3CA in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    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 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918
    • MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501
    • HEMIMEGALENCEPHALY PIK3CA
    Tags
    • mosaicism

    Red PIK3CA in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 1.8
    Latest signed off version: v1.4 (4 Mar 2020)

    Component of the following Super Panels:

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

    Green PIK3CA in Severe Paediatric Disorders


    Version 1.66

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • PIK3CA-related Overgrowth Spectrum

    Green PIK3CA in NewbornFullV1


    Version 0.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green