Inherited white matter disorders
Gene: LMNB1Comment 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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
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
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Phenotypes for LMNB1 were set to Leukodystrophy,adult-onset, autosomal dominant,169500; Adult onset autosomal dominant leukodystrophy (ADLD); General Leukodystrophy & Mitochondrial Leukoencephalopathy
Mode of pathogenicity for LMNB1 was changed to Other - please provide details in the comments
Mode of inheritance for LMNB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for LMNB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for LMNB1 was changed to Other - please provide details in the comments
Publications for LMNB1 were set to 25655951; 21909802; 21225301
Publications for LMNB1 were set to 25655951
Phenotypes for LMNB1 were set to Leukodystrophy,adult-onset,autosomal dominant,169500
This gene has been classified as Green List (High Evidence).
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
LMNB1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
LMNB1 was created by ellenmcdonagh