ACTN4

actinin alpha 4
OMIM: 604638, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ACTN4 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glomerulosclerosis, focal segmental, 1, MIM#603278

Green ACTN4 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.225

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glomerulosclerosis, focal segmental, 1, MIM#603278

    Green ACTN4 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Glomerulosclerosis, focal segmental, 1

    Red ACTN4 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Glomerulosclerosis, focal segmental, 1, MIM#603278