Genomics England

mitogen-activated protein kinase binding protein 1

Panel	Mode of inheritance	Details
Filter panels3 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 9.0	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 5.0	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 3.32	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nephronophthisis 20, OMIM:617271, nephronophthisis 20, MONDO:0014997