Inherited white matter disorders
Gene: LMNB1EnsemblGeneIds (GRCh38): ENSG00000113368
EnsemblGeneIds (GRCh37): ENSG00000113368
OMIM: 150340, Gene2Phenotype
LMNB1 is in 8 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)
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 & peptideCreated: 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, OMIM:169500
- Tags
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LMNB1 were changed from Leukodystrophy,adult-onset, autosomal dominant,169500; Adult onset autosomal dominant leukodystrophy (ADLD); General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukodystrophy, adult-onset, autosomal dominant, OMIM:169500
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.
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
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for LMNB1 was changed to Other - please provide details in the comments
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for LMNB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for LMNB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)Mode of pathogenicity for LMNB1 was changed to Other - please provide details in the comments
Set publications
Sarah Leigh (Genomics England Curator)Publications for LMNB1 were set to 25655951; 21909802; 21225301
Set publications
Sarah Leigh (Genomics England Curator)Publications for LMNB1 were set to 25655951
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for LMNB1 were set to Leukodystrophy,adult-onset,autosomal dominant,169500
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Added New Source
Ellen McDonagh (Genomics England Curator)LMNB1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)LMNB1 was created by ellenmcdonagh