Progressive Myoclonic Epilepsy
Gene: NHLRC1
NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000187566
EnsemblGeneIds (GRCh37): ENSG00000187566
OMIM: 608072, Gene2Phenotype
NHLRC1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000187566
EnsemblGeneIds (GRCh37): ENSG00000187566
OMIM: 608072, Gene2Phenotype
NHLRC1 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Epilepsy, progressive myoclonic 2B (Lafora) 254780
- OMIM
- 608072
- Clinvar variants
- Variants in NHLRC1
- Penetrance
- None
- Panels with this gene
-
- Early-onset Parkinson disease
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Early-onset Dementia
- Glycogen Storage Diseases
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- 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: NHLRC1 was added gene: NHLRC1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780