PIK3C2A

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
OMIM: 603601, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green PIK3C2A in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculoskeletodental syndrome, OMIM:618440, MONDO:0034145
Green PIK3C2A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oculoskeletodental syndrome 618440
    Green PIK3C2A in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculoskeletodental syndrome, OMIM:618440
    • Oculocerebrodental syndrome, MONDO:0034145
    Red PIK3C2A in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Oculoskeletodental syndrome 618440
    Amber PIK3C2A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Oculoskeletodental syndrome, 618440
    Green PIK3C2A in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oculoskeletodental syndrome 618440