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Kleine-Levin syndrome

Gene: CSNK1D

Amber List (moderate evidence)
CSNK1D (casein kinase 1 delta)
EnsemblGeneIds (GRCh38): ENSG00000141551
EnsemblGeneIds (GRCh37): ENSG00000141551
OMIM: 600864, Gene2Phenotype
CSNK1D 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. Two variants reported in two families and rs11552085 has been associated with polysomnographic sleep latency in 8 heterozygotes
Created: 5 Jan 2017, 10:25 a.m.
Created: 5 Jan 2017, 10:25 a.m.

Panel version: 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Advanced sleep-phase syndrome, familial, 2, 615224
OMIM
600864
Clinvar variants
Variants in CSNK1D
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Feb 2017, Gel status: 2

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: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Jan 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CSNK1D were set to 23636092; 25660813

5 Jan 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CSNK1D was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Nov 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CSNK1D were set to 23636092

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CSNK1D was added to Kleine-Levin Syndrome (KLS) and other inherited sleep disorders panel. Sources: Radboud University Medical Center, Nijmegen