Kleine-Levin syndrome

Gene: PER2

Red List (low evidence)

PER2 (period circadian regulator 2)
EnsemblGeneIds (GRCh38): ENSG00000132326
EnsemblGeneIds (GRCh37): ENSG00000132326
OMIM: 603426, Gene2Phenotype
PER2 is in 3 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 family
Created: 5 Jan 2017, 12:34 p.m.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Advanced sleep phase syndrome, familial, 1, 604348
Clinvar variants
Variants in PER2
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