Renal and urinary tract disorders
Gene: MAPKBP1

MAPKBP1 (mitogen-activated protein kinase binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000137802
EnsemblGeneIds (GRCh37): ENSG00000137802
OMIM: 616786, Gene2Phenotype
MAPKBP1 is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Sufficient cases
Created: 28 Mar 2019, 2:24 p.m.

Comment from Genomics England Clinical team: 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, 2:24 p.m.

Added gene to panel as it has been added to the source Cystic kidney disease panel.
Sources: Expert list
Created: 28 Mar 2019, 2:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NEPHRONOPHTHISIS 20

Publications

28089251

Created: 28 Mar 2019, 2:23 p.m.

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

NEPHRONOPHTHISIS 20

OMIM

616786

Clinvar variants

Variants in MAPKBP1

Penetrance

None

Publications

28089251

Panels with this gene

History Filter Activity

28 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mapkbp1 has been classified as Green List (High Evidence).

28 Mar 2019, Gel status: 1

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 Renal and urinary tract disorders. Sources: Expert list 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 NEPHRONOPHTHISIS 20 Review for gene: MAPKBP1 was set to GREEN

Renal and urinary tract disorders Gene: MAPKBP1