Glycogen storage disease
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
Carol Hardy (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 2B (Lafora) 254780
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Phenotypes
-
- Epilepsy, progressive myoclonic 2B (Lafora) 254780
- OMIM
- 608072
- Clinvar variants
- Variants in NHLRC1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- 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
- Early onset or syndromic epilepsy
- Ketotic hypoglycaemia
- Intellectual disability
- Hereditary ataxia
- Glycogen storage disease
History Filter Activity
13 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NHLRC1 was added gene: NHLRC1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS 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