Genomics England
GMS Panels
Panels
Genes and Entities

MAPKBP1

mitogen-activated protein kinase binding protein 1
OMIM: 616786
PanelMode of inheritanceDetails
3 panels
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
  • - Unexplained young onset end-stage renal disease
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS 20
Green
in Renal ciliopathies
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
  • - Unexplained young onset end-stage renal disease
Signed-off version 3.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 20 617271
Green
in Tubulointerstitial kidney disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R202
Signed-off version 3.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronopthisis 20 MIM 6175271