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Genetic epilepsy syndromes

Gene: CERS1

Amber List (moderate evidence)

CERS1 (ceramide synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000223802
EnsemblGeneIds (GRCh37): ENSG00000223802
OMIM: 606919, Gene2Phenotype
CERS1 is in 1 panel

2 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Epilepsy, progressive myoclonic, 8, 616230
OMIM
606919
Clinvar variants
Variants in CERS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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