1. Genes and Genomic Entities
  2. DLX3

DLX3

distal-less homeobox 3
OMIM: 600525, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green DLX3 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Amelogenesis imperfecta, type IV 104510
    • Trichodontoosseous syndrome 190320
    Green DLX3 in Amelogenesis imperfecta


    Level 2: Musculoskeletal
    Version 4.30
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    Phenotypes
    • Amelogenesis imperfecta, type IV, 104510
    • Amelogenesis Imperfecta, Type IV, 104510
    • Amelogenesis Imperfecta, Dominant
    • amelogenesis imperfecta with taurodontism
    • Trichodontoosseous syndrome, 190320
    • Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia)
    • hypoplastic AI, taurodontism and kinky hair
    • Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic
    Red DLX3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Amelogenesis imperfecta, type IV, OMIM:104510
    • Trichodontoosseous syndrome, OMIM:190320