PanelApp
  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

Green MAN2B2 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.78

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140

    Green MAN2B2 in Mendeliome


    Version 1.3512

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140

    Amber MAN2B2 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.138

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

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