MAN2C1

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MAN2C1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.189

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Research
    • Literature
    Phenotypes
    • Congenital disorder of deglycosylation 2, MIM# 619775

    Green MAN2C1 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.65

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of deglycosylation 2, MIM# 619775

    Green MAN2C1 in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of deglycosylation 2, MIM# 619775

    Green MAN2C1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of deglycosylation 2, MIM# 619775

    Red MAN2C1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review Unknown
    Sources
    • Literature
    • Expert list
    • Expert Review Red
    Phenotypes
    • alpha-Mannosidosis

    Green MAN2C1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital disorder of deglycosylation 2, MIM# 619775