Kleine-Levin syndrome
Gene: PER2
PER2 (period circadian regulator 2)
EnsemblGeneIds (GRCh38): ENSG00000132326
EnsemblGeneIds (GRCh37): ENSG00000132326
OMIM: 603426, Gene2Phenotype
PER2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000132326
EnsemblGeneIds (GRCh37): ENSG00000132326
OMIM: 603426, Gene2Phenotype
PER2 is in 2 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One variant reported in a four generation familyCreated: 5 Jan 2017, 12:34 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Advanced sleep phase syndrome, familial, 1, 604348
- OMIM
- 603426
- Clinvar variants
- Variants in PER2
- Penetrance
- Complete
- Publications
- 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 Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PER2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Nov 2016, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for PER2 were set to 11232563
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PER2 was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: Radboud University Medical Center, Nijmegen