PIK3R2

phosphoinositide-3-kinase regulatory subunit 2
OMIM: 603157, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Red PIK3R2 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Green PIK3R2 in Hydrocephalus


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Green PIK3R2 in Segmental overgrowth disorders - Deep sequencing


Version 3.16
Latest signed off version: v3.3 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387
  • MPPH1
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387
  • Macrocephaly and Overgrowth Syndromes
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1
Green PIK3R2 in Limb disorders


Version 4.16
Latest signed off version: v4.0 (22 Mar 2023)

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
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
    • Polydactyly
    Green PIK3R2 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.23
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
    Green PIK3R2 in Vascular skin disorders


    Version 1.54
    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
    • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387
    Green PIK3R2 in Fetal anomalies


    Version 3.137
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
    Green PIK3R2 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 603387
    Red PIK3R2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.106
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
    • MPPH1
    Green PIK3R2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.175
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
    Green PIK3R2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.480
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387
    • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
    Green PIK3R2 in Neurological segmental overgrowth


    Version 2.9
    Latest signed off version: v2.6 (22 Mar 2023)

    Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
    Green PIK3R2 in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387