Progressive Myoclonic Epilepsy
Gene: CLN6
CLN6 (CLN6, transmembrane ER protein)
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 15 panels
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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
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Progressive Myoclonic Epilepsy
- Early-onset Dementia
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
- Cerebral Palsy
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