1. Genes and Genomic Entities
  2. LMAN2L

LMAN2L

lectin, mannose binding 2 like
OMIM: 609552, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber LMAN2L in Early onset or syndromic epilepsy


Level 2: Neurology
Version 9.68
Latest signed off version: v9.56 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Intellectual developmental disorder, autosomal dominant 69, OMIM:617863
    • ?Intellectual developmental disorder, autosomal recessive 52, OMIM:616887
    • intellectual developmental disorder, autosomal dominant 69, MONDO:0029465
    • intellectual disability, autosomal recessive 52, MONDO:0014815
    Tags
    • Q3_26_promote_green
    Amber LMAN2L in Intellectual disability


    Level 2: Developmental disorders
    Version 11.13
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Intellectual developmental disorder, autosomal dominant 69, OMIM:617863
    • ?Intellectual developmental disorder, autosomal recessive 52, OMIM:61688
    • intellectual disability, autosomal recessive 52, MONDO:0014815
    • intellectual developmental disorder, autosomal dominant 69, MONDO:0029465
    Tags
    • Q3_26_promote_green