PanelApp (stage)
  1. Genes and Genomic Entities
  2. MAN2B2

MAN2B2

mannosidase alpha class 2B member 2
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MAN2B2 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related

    Amber MAN2B2 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
    • immunodeficiency

    Red MAN2B2 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
    • Combined Immune deficiency