VMA22

vacuolar ATPase assembly factor VMA22
OMIM: 613734, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green VMA22 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type IIo (MIM# 616828)

    Green VMA22 in Mendeliome


    Version 2.10

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type IIo (MIM# 616828)

    Green VMA22 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type IIo MIM# 616828

    Green VMA22 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive

    Green VMA22 in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 2.0

    Component of the following Super Panels:

  • Liverome Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital disorder of glycosylation, type IIo, MIM# 616828

    Red VMA22 in Fetal anomalies


    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type IIo, MIM# 616828

    Green VMA22 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Congenital disorder of glycosylation, type IIo, MIM#616828