1. Genes and Genomic Entities
  2. DDR2

DDR2

discoidin domain receptor tyrosine kinase 2
OMIM: 191311, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber DDR2 in Arthrogryposis


Level 2: Neurology
Version 9.32
Latest signed off version: v9.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Warburg-Cinotti syndrome, OMIM:618175
Tags
  • Q1_26_promote_green
Green DDR2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.39
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported
    • Spondylometaepiphyseal dysplasia, short limb-hand type 271665
    Green DDR2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.184
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE
    No list DDR2 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green DDR2 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665
    Amber DDR2 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.41
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Warburg-Cinotti syndrome, OMIM:618175
    Tags
    • Q1_26_promote_green
    Red DDR2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.355
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO