Early onset dementia (encompassing fronto-temporal dementia and prion 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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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).
Associated with phenotype in OMIM, not in G2P / DD. At least 7 variants reported
Created: 6 Feb 2017, 12:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 2B (Lafora) 254780

Publications

Created: 6 Feb 2017, 11:42 a.m.

Panel version: 1.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Radboud University Medical Center, Nijmegen
UKGTN
Illumina TruGenome Clinical Sequencing Services
Expert Review
Emory Genetics Laboratory

Phenotypes

Epilepsy, progressive myoclonic 2B (Lafora) 254780

OMIM

608072

Clinvar variants

Variants in NHLRC1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NHLRC1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Emory Genetics Laboratory,Expert Review,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

6 Feb 2017, Gel status: 0

Created