ACTN4

actinin alpha 4
OMIM: 604638, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ACTN4 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.124

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 1 603278
Green ACTN4 in Proteinuric renal disease


Level 2: Renal
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    Phenotypes
    • Glomerulosclerosis, focal segmental, 1 603278