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  3. LMNB2
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Early onset or syndromic epilepsy

Gene: LMNB2

Red List (low evidence)
LMNB2 (lamin B2)
EnsemblGeneIds (GRCh38): ENSG00000176619
EnsemblGeneIds (GRCh37): ENSG00000176619
OMIM: 150341, Gene2Phenotype
LMNB2 is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

PMID 33033404 reports five individuals with heterozygous variants in LMNB2. One of these cases was de novo for c.160A>C p.N54H (NM_032737.4) and the remaining cases had c.1192G>A, p.Glu398Lys (NM_032737.4), which was shown to be de novo in two cases and inherited from the unaffected mother, who was mosaic for the variant. The inheritance in the remaining case was not established and this patient had absence seizures from 5yr, 1-2 per year as part of a wider developmental disorder which also included severe developmental delay.
Created: 24 Nov 2020, 11:53 a.m. | Last Modified: 24 Nov 2020, 11:53 a.m.
Panel Version: 2.225

Publications

Created: 24 Nov 2020, 11:53 a.m.
Last Modified: 24 Nov 2020, 11:53 a.m.
Panel version: 2.225

Rebecca Foulger (Genomics England curator)

I don't know

This gene was part of an initial gene list 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: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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)

Red List (low evidence)

AR progressive myoconic epilepsy. Reported on OMIM in 2 sisters in 1 consanguineous family. Only 1 reported case. 4 additional variants on HGMD but in association with lipodystrophy.
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, 9, 616540 ; {Lipodystrophy, partial, acquired, susceptibility to}, 608709

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Wessex and West Midlands GLH
Phenotypes
  • ?Epilepsy, progressive myoclonic, 9, OMIM:616540
OMIM
150341
Clinvar variants
Variants in LMNB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: LMNB2 were changed from {Lipodystrophy, partial, acquired, susceptibility to}, 608709; ?Epilepsy, progressive myoclonic, 9, 616540 to ?Epilepsy, progressive myoclonic, 9, OMIM:616540

24 Nov 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LMNB2 were set to 16826530

6 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: LMNB2 was added gene: LMNB2 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: LMNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMNB2 were set to 16826530 Phenotypes for gene: LMNB2 were set to {Lipodystrophy, partial, acquired, susceptibility to}, 608709; ?Epilepsy, progressive myoclonic, 9, 616540