Early onset or syndromic epilepsy

Gene: NHLRC1

I don't know

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

Green List (high evidence)

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

• 15781812
• 21505799

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.

Green List (high evidence)

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

• 12958597

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)