GLDN

gliomedin
OMIM: 608603, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GLDN in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lethal congenital contracture syndrome 11, MIM# 617194
    • MONDO:0014965

    Amber GLDN in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Lethal congenital contracture syndrome 11, MIM# 617194

    Green GLDN in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lethal congenital contracture syndrome 11, MIM# 617194
    • MONDO:0014965

    Green GLDN in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Lethal congenital contracture syndrome 11, MIM# 617194
    • MONDO:0014965

    Green GLDN in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive

    Green GLDN in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lethal congenital contracture syndrome 11, MIM# 617194
    • MONDO:0014965

    Green GLDN in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive