Hereditary ataxia

Gene: NHLRC1

Green List (high evidence)

NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000187566
EnsemblGeneIds (GRCh37): ENSG00000187566
OMIM: 608072, Gene2Phenotype
NHLRC1 is in 13 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).
Created: 6 Feb 2017, 11:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 2B (Lafora) 254780

Publications

Details

History Filter Activity

6 Feb 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NHLRC1 was created by sleigh

6 Feb 2017, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NHLRC1 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Expert Review,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN