Hereditary ataxia
Gene: NHLRC1
NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000187566
EnsemblGeneIds (GRCh37): ENSG00000187566
OMIM: 608072, Gene2Phenotype
NHLRC1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000187566
EnsemblGeneIds (GRCh37): ENSG00000187566
OMIM: 608072, Gene2Phenotype
NHLRC1 is in 12 panels
1 review
Sarah Leigh (Genomics England Curator)
Lafora Epilepsy typically starts between ages 12-17, and is characterized by epilepsy (myoclonus or generalised) and progressive neurological deterioration (including dementia, ataxia), comments from Dr Arianna Tucci (Neurology, UCL).Created: 6 Feb 2017, 11:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 2B (Lafora) 254780
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Expert Review
- Radboud University Medical Center, Nijmegen
- Literature
- UKGTN
- Phenotypes
-
- Epilepsy, progressive myoclonic 2B (Lafora) 254780
- OMIM
- 608072
- Clinvar variants
- Variants in NHLRC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ketotic hypoglycaemia
- Hereditary ataxia
- Glycogen storage disease
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
6 Feb 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)NHLRC1 was created by sleigh
6 Feb 2017, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)NHLRC1 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Expert Review,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN