Severe early-onset obesity
Gene: AKR1C2

AKR1C2 (aldo-keto reductase family 1 member C2)
EnsemblGeneIds (GRCh38): ENSG00000151632
EnsemblGeneIds (GRCh37): ENSG00000151632
OMIM: 600450, Gene2Phenotype
AKR1C2 is in 5 panels

3 reviews

Ismaa Farooqi (University of Cambridge)

Red List (low evidence)

Created: 15 Aug 2019, 2:02 p.m.
Last Modified: 15 Aug 2019, 2:02 p.m.
Panel version: 1.22

stephen o'rahilly (university of cambridge)

Red List (low evidence)

Mode of inheritance
Unknown

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Ayesha Ahmed (GEL)

Comment on list classification: expert opinion
Created: 14 Aug 2016, 7:48 a.m.

Created: 14 Aug 2016, 7:48 a.m.

Panel version: 0.81

Details

Sources

Expert list
Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Obesity, hyperphagia, and developmental delay

OMIM

600450

Clinvar variants

Variants in AKR1C2

Penetrance

Complete

Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Expert list was added to AKR1C2.

25 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.

15 Aug 2016, Gel status: 1