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 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • congenital disorder of glycosylation, MONDO:0015286
    Red MAN2B2 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • congenital disorder of glycosylation, MONDO:0015286
    Amber MAN2B2 in Likely inborn error of metabolism - targeted testing not possible


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • congenital disorder of glycosylation, MONDO:0015286