AKR1C4

aldo-keto reductase family 1 member C4
OMIM: 600451, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red AKR1C4 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {46XY sex reversal 8, modifier of}, MIM# 614279

Red AKR1C4 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {46XY sex reversal 8, modifier of}, MIM# 614279