AGRN

agrin
OMIM: 103320, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green AGRN in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120
Tags
  • treatable
  • clinical trial

Amber AGRN 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 Amber
  • Literature
Phenotypes
  • Fetal akinesia sequence

Green AGRN in Congenital Myasthenia


Level 2: Neurology and neurodevelopmental disorders
Version 1.10

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
    Tags
    • treatable
    • clinical trial

    Green AGRN 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
    • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)

    Green AGRN in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Myasthenia, limb-girdle, familial

    Amber AGRN in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Fetal akinesia deformation sequence (FADS)

    Green AGRN in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)

    Green AGRN in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120
    Tags
    • treatable
    • clinical trial
    • neurological