This Panel is marked as Internal
Intellectual disability update Jan 2018
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
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed from Amber to Red after internal clinical review. This is more of a cognitive decline following a (variable length) period of normal functioning. This gene is currently rated Green on the early onset dementia panel which would seem a more appropriate panel to capture this presentation.Created: 27 Feb 2018, 1:21 p.m.
Associated with phenotype in OMIM, not in G2P / DD. At least 7 variants reported. However, I am not sure if this should be rated Green on the Intellectual Disability panel and would suggest Red since it is the seizers due to the myoclonic epilepsy that result in progressive motor and mental deterioration. ID is not independently present. To be discussed with internal clinical team for review.
Created: 26 Feb 2018, 5:39 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- Phenotypes
-
- Epilepsy, progressive myoclonic 2B (Lafora), 254780
- OMIM
- 608072
- Clinvar variants
- Variants in NHLRC1
- Penetrance
- None
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Glycogen storage disease
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
27 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
26 Feb 2018, Gel status: 2
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for NHLRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
26 Feb 2018, Gel status: 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora), 254780
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)NHLRC1 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)NHLRC1 was created by Ellen McDonagh