CD2AP

CD2 associated protein
OMIM: 604241, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CD2AP in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917

Green CD2AP 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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917

    Red CD2AP in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Glomerulosclerosis, focal segmental, 3

    Red CD2AP in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Glomerulosclerosis, focal segmental, 3