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  2. Progressive Myoclonic Epilepsy
  3. CERS1
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Progressive Myoclonic Epilepsy

Gene: CERS1

Green List (high evidence)
CERS1 (ceramide synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000223802
EnsemblGeneIds (GRCh37): ENSG00000223802
OMIM: 606919, Gene2Phenotype
CERS1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Two unrelated families with PME identified, and functional assays in vitro and in patient cells demonstrating impaired ceramide biosynthesis. Mouse model shows neurodegeneration and lipofuscin accumulation.
Sources: Expert list
Created: 4 Feb 2020, 3:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic, 8 MIM#616230

Publications

Created: 4 Feb 2020, 3:38 a.m.

Panel version: Imported from Genetic Epilepsy panel version 0.561

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • ?Epilepsy, progressive myoclonic, 8, 616230
OMIM
606919
Clinvar variants
Variants in CERS1
Penetrance
None
Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CERS1 was added gene: CERS1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CERS1 were set to ?Epilepsy, progressive myoclonic, 8, 616230