Paroxysmal central nervous system disorders
Gene: PER2EnsemblGeneIds (GRCh38): ENSG00000132326
EnsemblGeneIds (GRCh37): ENSG00000132326
OMIM: 603426, Gene2Phenotype
PER2 is in 2 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Insufficient evidenceCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Advanced sleep phase syndrome, familial, 1, 604348
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Advanced sleep phase syndrome, familial, 1, 604348
- OMIM
- 603426
- Clinvar variants
- Variants in PER2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: per2 has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to PER2.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PER2.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to PER2.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Advanced sleep phase syndrome, familial, 1, 604348 for gene: PER2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PER2 was added gene: PER2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: PER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PER2 were set to 11232563 Phenotypes for gene: PER2 were set to Advanced sleep phase syndrome, familial, 1, 604348