Early onset or syndromic epilepsy
Gene: NHLRC1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
previously called EPM2B. AR progressive myoclonic epilepsy 2B (Lafora) - for info on disease see EPM2A. Chan et al, 2003 - 34 probands with Lafora disease - 17 diff mutations in 26 families incl 8 dels, 1 ins, 7 missense and 1 nonsense. 18 families hom and 8 compound het. Gomez-Abad et al, 2005 - identified 18 mutations incl 12 novel in 23/25 with Lafora disease. P69A was a predominant mutation in 89 unrelated families. Singh et al, 2005 6 diff mutations in 5 of 8 Japenese families with Lafora disease. Singh et sal, 2006 7 diff mutations incl 2 novel mutations in this gene in aff males of 8 families with Lafora disease.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 2B (Lafora), 254780
Publications
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in unrelated cases.Created: 16 Oct 2018, 3:18 p.m.
Multiple individuals from unrelated families and bi-allelic variants in this gene reported.Created: 17 Aug 2018, 10:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to NHLRC1.
Source NHS GMS was added to NHLRC1.
Zornitza Stark: Multiple individuals from unre
Publications for gene: NHLRC1 were set to
Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Gene: nhlrc1 has been classified as Green List (High Evidence).
Gene: nhlrc1 has been classified as Amber List (Moderate Evidence).
Source NIHRBR-RD Consortium SPEED_v3.0_20170404 was removed from NHLRC1. Source Expert was removed from NHLRC1. Source Victorian Clinical Genetics Services was removed from NHLRC1. Source Emory Genetics Laboratory was added to NHLRC1. Mode of inheritance for gene NHLRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to NHLRC1. Panel: Genetic Epilepsy Syndromes
Expert Review Amber was added to NHLRC1. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to NHLRC1. Panel: Genetic Epilepsy Syndromes
NHLRC1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
NHLRC1 was created by Sarah Leigh