LMNB2

lamin B2
OMIM: 150341, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber LMNB2 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
Tags
  • for-review

Red LMNB2 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 BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Wessex and West Midlands GLH
Phenotypes
  • {Lipodystrophy, partial, acquired, susceptibility to}, 608709
  • ?Epilepsy, progressive myoclonic, 9, 616540

Amber LMNB2 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
    • Congenital microcephaly
    • Global developmental delay
    • Intellectual disability