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 2: Ophthalmology
Version 8.1
Latest signed off version: v8.0 (6 May 2026)

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


Level 2: Musculoskeletal
Version 9.9
Latest signed off version: v9.0 (6 May 2026)

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


    Level 2: Fetal (including NIPD)
    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    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 2: Audiology
    Version 6.10
    Latest signed off version: v6.0 (6 May 2026)

    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 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    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 2: Musculoskeletal
    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    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