AKR1C2

aldo-keto reductase family 1 member C2
OMIM: 600450, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red AKR1C2 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, MIM# 614279

Red AKR1C2 in Mendeliome


Version 1.1891

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

Red AKR1C2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • 46XY sex reversal 8, MIM#614279

Red AKR1C2 in Severe early-onset obesity


Level 2: Endocrine disorders
Version 1.10

review Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Obesity