Ketotic hypoglycaemia
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
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Remains red due to expert review.Created: 8 Jun 2016, 12:34 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Glycogen Storage Disease
- OMIM
- 608072
- Clinvar variants
- Variants in NHLRC1
- Penetrance
- Complete
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Ketotic hypoglycaemia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Glycogen storage disease
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
8 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
19 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NHLRC1 was added to Ketotic hypoglycaemiapanel. Sources: UKGTN