AKR1C2

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red AKR1C2 in Kleine-Levin syndrome

Level 3: Sleep disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.7

review Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, hyperphagia, and developmental delay

Red AKR1C2 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 2.40
Latest signed off version: v2.2 (18 Feb 2020)

review Not set
Sources
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, hyperphagia, and developmental delay

Red AKR1C2 in Paroxysmal central nervous system disorders


Version 1.16
Latest signed off version: v1.2 (27 Feb 2020)

review Unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Obesity, hyperphagia, and developmental delay

Red AKR1C2 in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.49
Latest signed off version: v2.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Other
Phenotypes
  • 46XY sex reversal 8 614279

Red AKR1C2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1214
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • 46XY sex reversal 8 614279