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Kleine-Levin syndrome

Gene: CRY1

Red List (low evidence)
CRY1 (cryptochrome circadian regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000008405
EnsemblGeneIds (GRCh37): ENSG00000008405
OMIM: 601933, Gene2Phenotype
CRY1 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Adding this gene as red to the panel after consultation with the Genomics England clinical team. There are sufficient cases to rate higher, but the phenotype, although sleep related, is not relevant to the panel scope which targets hypersomnolence, so keeping red for now.
Created: 7 Oct 2020, 3:03 p.m. | Last Modified: 7 Oct 2020, 3:03 p.m.
Panel Version: 1.7
Reviewed by Ee Ming Wong (Victorian Clinical Genetics Services) in PanelApp Australia https://panelapp.agha.umccr.org/panels/137/gene/CRY1/.

PMID: 32538895 - Onat et al 2020- heterozygous variants in 15 families with ADHD/insomnia. 
PMID: 28388406 - Patke et al 2017 - identify the CRY1 Δ11 GOF allele in an initial family and then additional families with Delayed Sleep Phase Disorder.
Sources: Literature
Created: 7 Oct 2020, 3:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Attention deficit/hyperactivity disorder (ADHD); Delayed sleep phase disorder (DSPD)

Publications

Created: 7 Oct 2020, 3:01 p.m.

Panel version: 1.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Attention deficit/hyperactivity disorder (ADHD)
  • Delayed sleep phase disorder (DSPD)
OMIM
601933
Clinvar variants
Variants in CRY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cry1 has been classified as Red List (Low Evidence).

7 Oct 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: CRY1 was added gene: CRY1 was added to Kleine-Levin syndrome. Sources: Literature Mode of inheritance for gene: CRY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CRY1 were set to 32538895; 28388406 Phenotypes for gene: CRY1 were set to Attention deficit/hyperactivity disorder (ADHD); Delayed sleep phase disorder (DSPD) Review for gene: CRY1 was set to RED