LMBRD2

LMBR1 domain containing 2
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red LMBRD2 in DDG2P


Version 6.426
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
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • LMBRD2-associated intellectual disability
    Green LMBRD2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Microcephaly
    • Seizures
    • Abnormality of nervous system morphology
    • Abnormality of the eye
    Tags
    • gene-checked
    Green LMBRD2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    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 Green
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Microcephaly
    • Seizures
    • Abnormality of nervous system morphology
    • Abnormality of the eye
    Tags
    • gene-checked