1. Genes and Genomic Entities
  2. PRKG2

PRKG2

protein kinase, cGMP-dependent, type II
OMIM: 601591, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PRKG2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 10.1
Latest signed off version: v10.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Acromesomelic dysplasia 4, OMIM:619636
    • Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638
    Amber PRKG2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Acromesomelic dysplasia 4, OMIM:619636
    • Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638
    Green PRKG2 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636