1. Genes and Genomic Entities
  2. DDRGK1

DDRGK1

DDRGK domain containing 1
OMIM: 616177, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green DDRGK1 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
    • NHS GMS
    • Literature
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557
    Green DDRGK1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557