Genetic epilepsy syndromesGene: CSNK1G1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
OMIM - VUS reported Martin et al, 2014 - child from Bangledesh with EIEE and microcephaly - de novo het missense variant no functional studies done.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
severe early-onset epilepsy
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Only one variant reported to date in a single case of early infantile epileptic encephalopathy and microcephaly, no functional data was provided (PMID 24463883)
Created: 9 Apr 2018, 5 p.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
Created: 12 Nov 2015, 3:57 p.m.
Source Wessex and West Midlands GLH was added to CSNK1G1.
Source NHS GMS was added to CSNK1G1.
Ellen McDonagh: Gene added in expert review of
Publications for gene: CSNK1G1 were set to 24463883
Publications for gene: CSNK1G1 were set to Martin et al (2014) Hum Mol Genet 23(12).3200-3211
CSNK1G1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert Review
CSNK1G1 was created by Sarah Leigh