RCAN1

regulator of calcineurin 1
OMIM: 602917, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber RCAN1 in Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • focal segmental glomerulosclerosis, MONDO:0100313
    • nephrotic syndrome, MONDO:0005377