Tubulointerstitial kidney disease
Gene: MAPKBP1
PMID:28089251 reports seven variants present in biallelic form in 8 individuals from 5 families. All individuals had nephronophthisis with progression to ESRF in teens to 20s in 5/8 cases.Created: 28 Mar 2019, 2:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS 20
Publications
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:MAPKBP1;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 2 Feb 2019, 12:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronopthisis 20 MIM 6175271
Publications
gene: MAPKBP1 was added gene: MAPKBP1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKBP1 were set to 28089251 Phenotypes for gene: MAPKBP1 were set to Nephronopthisis 20 MIM 6175271