This Panel is marked as Retired
Epileptic encephalopathy
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
4 reviews
Amy McTague (UCL Institute of Child Health)
Natalie Trump (NHS - Great Ormond Street Hospital)
Manju Kurian (UCL-Institute of Child Health)
Richard Scott (North Thames GMC/UCL)
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 608072
- Clinvar variants
- Variants in NHLRC1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Hereditary ataxia
- Glycogen storage disease
- Hereditary ataxia with onset in adulthood
History Filter Activity
13 Nov 2015, Gel status: 1
gel status update
GEL ()The Gel status was updated for this whole panel
13 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NHLRC1 was added to Epileptic encephalopathypanel. Source: Expert Review Red
13 Nov 2015, Gel status: 0
gel status update
GEL ()The Gel status was updated for this whole panel
1 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NHLRC1 was added to Epileptic encephalopathypanel. Sources: Expert