Progressive Myoclonic Epilepsy

Gene: CLN6

Green List (high evidence)

CLN6 (CLN6, transmembrane ER protein)
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 15 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
  • Ceroid lipofuscinosis, neuronal, 6, 601780
OMIM
606725
Clinvar variants
Variants in CLN6
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: CLN6 was added gene: CLN6 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780