MAPKBP1

mitogen-activated protein kinase binding protein 1
OMIM: 616786, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MAPKBP1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 20, MIM# 617271
  • MONDO:0014997

Green MAPKBP1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 20, MIM# 617271
  • MONDO:0014997

Green MAPKBP1 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Nephronophthisis 20, MIM# 617271
    • MONDO:0014997

    Green MAPKBP1 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
    • Nephronophthisis 20, 617271 (3), Autosomal recessive

    Green MAPKBP1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Nephronophthisis 20, 617271 (3), Autosomal recessive