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Genetic epilepsy syndromes

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 12 panels

8 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

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

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

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NHLRC1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NHLRC1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Multiple individuals from unre

7 Nov 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NHLRC1 were set to

7 Nov 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780

7 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nhlrc1 has been classified as Green List (High Evidence).

16 Oct 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nhlrc1 has been classified as Amber List (Moderate Evidence).

1 Oct 2018, Gel status: 2

Removed Source, Removed Source, Removed Source, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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

26 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to NHLRC1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to NHLRC1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NHLRC1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NHLRC1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NHLRC1 was created by Sarah Leigh