Early onset or syndromic epilepsy
Gene: CERS1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Courage et al, 2021: PME7 & PME8 hom CERS1 variant Trp70* Leu68Met (AR) - sibling pair, quartet. segregation analysis conf het in parents - no mention of epilepsy in the phenotype.
Oliveira Godeiro Junior 2018: 22 year old, consaguineous, hom missense variant - generalised tonic-clonic seizures reported as part of phenotype.
Vanni et al 2014 & Ferlazzo et al, 2016: 4 related individuals with hom missense variant 4/4 GTCS. In vitro functional studies.Created: 6 Jul 2022, 3:50 p.m. | Last Modified: 6 Jul 2022, 3:50 p.m.
Panel Version: 2.543
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
progressive myoclonic epilepy
Publications
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least two missense variants reported in two unrelated cases, together with supportive functional evidence.Created: 12 May 2021, 8:14 a.m. | Last Modified: 12 May 2021, 8:14 a.m.
Panel Version: 2.351
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
However, the Q3_21_expert_review and Q3_21_phenotype tags have been added to this gene for an NHS review, because the phenotype associated with variants CERS1 includues progessive cognitive impairment and dementia.Created: 12 May 2021, 8:12 a.m. | Last Modified: 29 Sep 2021, 10:38 a.m.
Panel Version: 2.430
Another family and functional data.Created: 4 Feb 2020, 7:09 a.m. | Last Modified: 4 Feb 2020, 7:09 a.m.
Panel Version: 2.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic, 8 MIM#616230
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list 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: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR Progressive myoclonic epilepsy 8 - Ferlazzo et al, 2009 &Vanni et al, 2014 - 4 sibs of Algerian descent - hom missense variant. Segregated with disease in the family. In vitro cellular functional expression assays showed that the mutation resulted in decreased biosynthesis of C18-ceramides, indicating decreased CERS1 enzyme function.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Epilepsy, progressive myoclonic, 8, 616230
Publications
Tag Q2_21_rating was removed from gene: CERS1. Tag Q3_21_expert_review was removed from gene: CERS1. Tag Q3_21_phenotype was removed from gene: CERS1. Tag Q3_22_NHS_review was removed from gene: CERS1.
Source Expert Review Green was added to CERS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_22_NHS_review tag was added to gene: CERS1.
Publications for gene: CERS1 were set to 19243074; 30800706; 21625621; 24782409
Tag Q3_21_expert_review tag was added to gene: CERS1. Tag Q3_21_phenotype tag was added to gene: CERS1.
Tag Q2_21_rating tag was added to gene: CERS1.
Gene: cers1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CERS1 were changed from ?Epilepsy, progressive myoclonic, 8, 616230 to ?Epilepsy, progressive myoclonic, 8 OMIM:616230; progressive myoclonic epilepsy type 8 MONDO:0014545
Publications for gene: CERS1 were set to 19243074; 30800706; 21625621
Publications for gene: CERS1 were set to 19243074; 30800706; 21625621
Publications for gene: CERS1 were set to 19243074
gene: CERS1 was added gene: CERS1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CERS1 were set to 19243074 Phenotypes for gene: CERS1 were set to ?Epilepsy, progressive myoclonic, 8, 616230