CERS1

ceramide synthase 1
OMIM: 606919, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
Green CERS1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes ?Epilepsy, progressive myoclonic, 8 OMIM:616230 progressive myoclonic epilepsy type 8 MONDO:0014545

Panel

Reviews

Mode of inheritance

Details

Green CERS1 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Unexplained death in infancy and sudden unexplained death in childhood

review

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Wessex and West Midlands GLH

Phenotypes

?Epilepsy, progressive myoclonic, 8 OMIM:616230
progressive myoclonic epilepsy type 8 MONDO:0014545