DMRT1:Ensemblv90

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber DMRT1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

2 reviews 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 1.3802

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

Amber DMRT1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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