DMRT1

doublesex and mab-3 related transcription factor 1
OMIM: 602424, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber DMRT1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.55

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
Phenotypes
  • 46,XY disorder of sex development, MONDO:0020040

Green DMRT1 in Mendeliome


Version 1.4852

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 46,XY disorder of sex development, MONDO:0020040

Amber DMRT1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.414

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • 46,XY disorder of sex development, MONDO:0020040

Green DMRT1 in Infertility and Recurrent Pregnancy Loss


Version 1.156

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Azoospermia, MONDO:0100459, DMRT1-related