LMNB2

lamin B2
OMIM: 150341, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green LMNB2 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 27, primary, autosomal dominant, OMIM:619180
  • microcephaly 27, primary, autosomal dominant, MONDO:0030929
Tags
  • Q2_25_ MOI
Green LMNB2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Microcephaly 27, primary, autosomal dominant, OMIM:619180
  • microcephaly 27, primary, autosomal dominant, MONDO:0030929
Tags
  • Q2_25_ MOI
  • Q2_25_ NHS_review
Green LMNB2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LMNB2-related Primary Microcephaly
    Red LMNB2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    • Wessex and West Midlands GLH
    Phenotypes
    • ?Epilepsy, progressive myoclonic, 9, OMIM:616540
    Amber LMNB2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Microcephaly 27, primary, autosomal dominant, OMIM:619180