1. Genes and Genomic Entities
  2. MAN2C1

MAN2C1

mannosidase alpha class 2C member 1
OMIM: 154580, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red MAN2C1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Unknown
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • alpha-Mannosidosis
    Green MAN2C1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Congenital disorder of deglycosylation 2, OMIM:619775
    Green MAN2C1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MAN2C1-associated neurodevelopmental disorder with cerebral malformations
    Green MAN2C1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Other
    • Literature
    Phenotypes
    • Congenital disorder of deglycosylation 2, OMIM:619775