1. Genes and Genomic Entities
  2. MAN2C1

MAN2C1

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

3 panels

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

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Unknown
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • alpha-Mannosidosis
    Green MAN2C1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    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