Early onset or syndromic epilepsy

Gene: CERS1

Green List (high evidence)

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

Green List (high evidence)

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

• 33798445
• 30800706
• 27618929
• 24782409

Green List (high evidence)

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

Green List (high evidence)

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

• 30800706
• 21625621

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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

I don't know

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

• 19243074