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 0.244

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • skeletal dysplasia MONDO:0018230
  • DMRT2-related

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


Level 2: Renal and urinary tract disorders
Version 0.160

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • skeletal dysplasia MONDO:0018230
    • DMRT2-related

    Amber DMRT2 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.509

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • skeletal dysplasia MONDO:0018230
    • DMRT2-related

    Green DMRT2 in Mendeliome


    Version 1.3741

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • skeletal dysplasia MONDO:0018230,DMRT2-related

    Amber DMRT2 in Severe Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.27

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • skeletal dysplasia MONDO:0018230
    • DMRT2-related

    Green DMRT2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.362

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • skeletal dysplasia MONDO:0018230
    • DMRT2-related

    Green DMRT2 in Fetal anomalies


    Version 1.479

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • skeletal dysplasia MONDO:0018230
    • DMRT2-related