MAPKBP1

mitogen-activated protein kinase binding protein 1
OMIM: 616786
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS 20
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 20 617271
R-numbers: R202
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronopthisis 20 MIM 6175271
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS 20