Paroxysmal central nervous system disorders
Gene: CSNK1D
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
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
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
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
Phenotypes for gene: CSNK1D were changed from Advanced sleep-phase syndrome, familial, 2, 615224 to Advanced sleep-phase syndrome, familial, 2, OMIM:615224
Tag for-review was removed from gene: CSNK1D.
Source Expert Review Amber was added to CSNK1D. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag for-review tag was added to gene: CSNK1D.
Gene: csnk1d has been classified as Green List (High Evidence).
Gene: csnk1d has been classified as Green List (High Evidence).
Publications for gene: CSNK1D were set to 25660813; 23636092
Mode of inheritance for gene: CSNK1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to CSNK1D.
Source London North GLH was added to CSNK1D.
Source Wessex and West Midlands GLH was added to CSNK1D.
Added phenotypes Advanced sleep-phase syndrome, familial, 2, 615224 for gene: CSNK1D
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