MAPKBP1

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

No list MAPKBP1 in Ductal plate malformation


Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis 20 (617271)

Green MAPKBP1 in Tubulointerstitial kidney disease


Version 1.11
Signed off v.1.3 on 4 Mar 2020

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Nephronopthisis 20 MIM 6175271

    Green MAPKBP1 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.19
    Signed off v.2.2 on 19 Feb 2020

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • NEPHRONOPHTHISIS 20

    Green MAPKBP1 in Unexplained paediatric onset end-stage renal disease


    Version 1.11
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • NEPHRONOPHTHISIS 20

    Green MAPKBP1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.130

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Nephronophthisis 20 617271

    Green MAPKBP1 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.31
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Nephronophthisis 20 617271

    Red MAPKBP1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.64
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green MAPKBP1 in Severe Paediatric Disorders


    Version 1.20

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nephronophthisis 20, 617271