LMNB1

lamin B1
OMIM: 150340, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green LMNB1 in White matter disorders and cerebral calcification - narrow panel


Version 1.30
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Leukodystrophy,adult-onset, autosomal dominant,169500
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Adult onset autosomal dominant leukodystrophy (ADLD)

    Green LMNB1 in White matter disorders - adult onset


    Version 1.7
    Signed off v.1.6 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Leukodystrophy, adult-onset, autosomal dominant, 169500

    Green LMNB1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review 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

    Amber LMNB1 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.72
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital microcephaly
    • Global developmental delay
    • Intellectual disability
    • LMNB1-associated developmental disorder
    Tags
    • for-review

    Amber LMNB1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.257
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Microcephaly
    • Short stature
    • Seizures
    • Abnormality of the corpus callosum
    • Cortical gyral simplification
    • Feeding difficulties
    • Scoliosis
    • LMNB1-associated developmental disorder
    Tags
    • watchlist

    Amber LMNB1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.714
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Microcephaly
    • Short stature
    • Seizures
    • Abnormality of the corpus callosum
    • Cortical gyral simplification
    • Feeding difficulties
    • Scoliosis
    • LMNB1-associated developmental disorder
    Tags
    • for-review

    Green LMNB1 in Severe Paediatric Disorders


    Version 1.42

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, adult-onset, autosomal dominant, 169500