DMRT2

doublesex and mab-3 related transcription factor 2
OMIM: 604935, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DMRT2 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.246

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523

Amber DMRT2 in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 0.201

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523

    Amber DMRT2 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.529

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523

    Green DMRT2 in Mendeliome


    Version 1.4516

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523

    Amber DMRT2 in Severe Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.30

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523

    Green DMRT2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.417

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523

    Green DMRT2 in Fetal anomalies


    Version 1.542

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523