DMRT1

doublesex and mab-3 related transcription factor 1
OMIM: 602424, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber DMRT1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.6

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

Amber DMRT1 in Mendeliome


Version 1.2302

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