Paroxysmal central nervous system disorders
Gene: CSNK1DEnsemblGeneIds (GRCh38): ENSG00000141551
EnsemblGeneIds (GRCh37): ENSG00000141551
OMIM: 600864, Gene2Phenotype
CSNK1D is in 2 panels
5 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 4:30 p.m. | Last Modified: 8 Mar 2022, 4:30 p.m.
Panel Version: 1.36
There is NOT enough evidence for this gene to be rated GREEN and this rating should be reviewed at the next major review.
Based on the review by Zornitza Stark, that rs11552085 mentioned in PMID 25660813 has been reported in multiple individuals in public databases and the other variants have only been reported in two families.Created: 16 Sep 2020, 7:24 a.m. | Last Modified: 16 Sep 2020, 7:24 a.m.
Panel Version: 1.4
Zornitza Stark (Australian Genomics)
Two families reported only. The rs11552085 in PMID 25660813 appears to be present in >3,000 hets in gnomad. Gene is rated Amber on another panel.Created: 11 Sep 2020, 7:45 a.m. | Last Modified: 11 Sep 2020, 7:45 a.m.
Panel Version: 1.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Advanced sleep-phase syndrome, familial, 2 615224
Publications
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Comment on list classification: Promoted CSNK1D from Amber to Green based on Green reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:36 p.m. | Last Modified: 24 Sep 2019, 11:27 a.m.
Panel Version: 0.124
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)
Sleep disorderCreated: 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, 2, 615224
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Advanced sleep-phase syndrome, familial, 2, OMIM:615224
- OMIM
- 600864
- Clinvar variants
- Variants in CSNK1D
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: CSNK1D were changed from Advanced sleep-phase syndrome, familial, 2, 615224 to Advanced sleep-phase syndrome, familial, 2, OMIM:615224
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: CSNK1D.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to CSNK1D. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag for-review tag was added to gene: CSNK1D.
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: csnk1d has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: csnk1d has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: CSNK1D were set to 25660813; 23636092
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: CSNK1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to CSNK1D.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to CSNK1D.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to CSNK1D.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Advanced sleep-phase syndrome, familial, 2, 615224 for gene: CSNK1D
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CSNK1D was added gene: CSNK1D was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber Mode of inheritance for gene: CSNK1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CSNK1D were set to 25660813; 23636092 Phenotypes for gene: CSNK1D were set to Advanced sleep-phase syndrome, familial, 2, 615224