Tubulointerstitial kidney disease

Gene: MAPKBP1

Green List (high evidence)

MAPKBP1 (mitogen-activated protein kinase binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000137802
EnsemblGeneIds (GRCh37): ENSG00000137802
OMIM: 616786, Gene2Phenotype
MAPKBP1 is in 8 panels

2 reviews

Anna de Burca (Genomics England Curator)

Green List (high evidence)

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

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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 provided
Created: 2 Feb 2019, 12:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronopthisis 20 MIM 6175271

Publications

  • Macia et al Am. J. Hum. Genet. 100: 323-333, 2017. PubMed: 28089251

History Filter Activity

2 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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