Progressive Myoclonic Epilepsy
Gene: CLN5
CLN5 (CLN5, intracellular trafficking protein)
EnsemblGeneIds (GRCh38): ENSG00000102805
EnsemblGeneIds (GRCh37): ENSG00000102805
OMIM: 608102, Gene2Phenotype
CLN5 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000102805
EnsemblGeneIds (GRCh37): ENSG00000102805
OMIM: 608102, Gene2Phenotype
CLN5 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 5, MIM#256731
- OMIM
- 608102
- Clinvar variants
- Variants in CLN5
- Penetrance
- None
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Syndromic Retinopathy
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
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: CLN5 was added gene: CLN5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, MIM#256731