Kleine-Levin syndrome
Gene: AKR1C2
AKR1C2 (aldo-keto reductase family 1 member C2)
EnsemblGeneIds (GRCh38): ENSG00000151632
EnsemblGeneIds (GRCh37): ENSG00000151632
OMIM: 600450, Gene2Phenotype
AKR1C2 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000151632
EnsemblGeneIds (GRCh37): ENSG00000151632
OMIM: 600450, Gene2Phenotype
AKR1C2 is in 5 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with hyperphagia in OMIM, not in G2P / DD. No variants reportedCreated: 5 Jan 2017, 9:45 a.m.
Comment on phenotypes: Also associated with developmental delay 46XY sex reversal 8, 614279Created: 5 Jan 2017, 9:42 a.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- 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
1 Feb 2017, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Rosa Peraita-Adrados (Sleep and Epilepsy Unit-Clinical Neurophysiology Service. Gregorio Maranon University Hospital. Complutense University of Madrid (UCM).Madrid.Spain.), agrees with the status of the gene on this panel, although she has not reviewed every gene individually
5 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
5 Jan 2017, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for AKR1C2 were set to Obesity, hyperphagia, and developmental delay
5 Jan 2017, Gel status: 1
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for AKR1C2 was changed to Unknown
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)AKR1C2 was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: Radboud University Medical Center, Nijmegen