PIK3CA

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

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Red PIK3CA in Familial Neural Tube Defects


Version 1.6

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 1.4

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 2.4
Signed off v.2.2 on 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 2.5
Signed off v.2.3 on 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 2.5
Signed off v.2.1 on 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 2.4
Signed off v.2.2 on 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 2.7
Signed off v.2.5 on 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 2.5
Signed off v.2.2 on 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 1.3
    Signed off v.1.2 on 19 Feb 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 2.5
    Signed off v.2.2 on 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 1.3
    Signed off v.1.2 on 19 Feb 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 1.3
    Signed off v.1.2 on 19 Feb 2020

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

    No list PIK3CA in Multiple monogenic benign skin tumours


    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

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

    Red PIK3CA in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.7
    Signed off v.2.2 on 13 Feb 2020

    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 1.94

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

    Green PIK3CA in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    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 2.8
    Signed off v.2.2 on 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 2.69
    Signed off v.2.2 on 13 Feb 2020

    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 3.73
    Signed off v.3.2 on 13 Feb 2020

    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 1.6
    Signed off v.1.4 on 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 1.6

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