Inherited white matter disorders

Gene: LMNB1

Green List (high evidence)

LMNB1 (lamin B1)
EnsemblGeneIds (GRCh38): ENSG00000113368
EnsemblGeneIds (GRCh37): ENSG00000113368
OMIM: 150340, Gene2Phenotype
LMNB1 is in 4 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Gene duplications.
Created: 12 Aug 2016, 7:26 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.
Created: 12 Aug 2016, 7:25 a.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_614

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous overlapping duplication variants reported in this phenotype.
Created: 6 Jul 2016, 2:06 p.m.
Comment on mode of pathogenicity: Overlapping duplications of different sizes in different patients result in increased levels of mRNA & peptide
Created: 6 Jul 2016, 2:05 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)
Created: 6 Jul 2016, 1:56 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukodystrophy,adult-onset, autosomal dominant,169500
  • Adult onset autosomal dominant leukodystrophy (ADLD)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
gene-duplication
OMIM
150340
Clinvar variants
Variants in LMNB1
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

12 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for LMNB1 were set to Leukodystrophy,adult-onset, autosomal dominant,169500; Adult onset autosomal dominant leukodystrophy (ADLD); General Leukodystrophy & Mitochondrial Leukoencephalopathy

12 Aug 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for LMNB1 was changed to Other - please provide details in the comments

12 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for LMNB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for LMNB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jul 2016, Gel status: 4

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for LMNB1 was changed to Other - please provide details in the comments

6 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for LMNB1 were set to 25655951; 21909802; 21225301

6 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for LMNB1 were set to 25655951

6 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LMNB1 were set to Leukodystrophy,adult-onset,autosomal dominant,169500

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 May 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

LMNB1 was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

19 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNB1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen

19 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LMNB1 was created by ellenmcdonagh