LMNB2

lamin B2
OMIM: 150341, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber LMNB2 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Lipodystrophy, partial, acquired, susceptibility to} 608709

Green LMNB2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Lipodystrophy, partial, acquired, susceptibility to} 608709
  • Microcephaly 27, primary, autosomal dominant, MIM# 619180
  • Congenital microcephaly, Intellectual disability

Green LMNB2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 27, primary, autosomal dominant, MIM# 619180
  • Congenital microcephaly
  • Global developmental delay
  • Intellectual disability

Amber LMNB2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Epilepsy, progressive myoclonic, 9 MIM#616540

    Green LMNB2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly 27, primary, autosomal dominant, MIM# 619180
    • Congenital microcephaly
    • Global developmental delay
    • Intellectual disability

    Red LMNB2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Lipodystrophy, partial

    Green LMNB2 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly 27, primary, autosomal dominant - MIM#619180

    Red LMNB2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Lipodystrophy, partial