Ciliopathies
Gene: MAPKBP1

MAPKBP1 (mitogen-activated protein kinase binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000137802
EnsemblGeneIds (GRCh37): ENSG00000137802
OMIM: 616786, Gene2Phenotype
MAPKBP1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Juvenile or late-onset cilia-independent nephronophthisis. 9 unrelated families reported. Mouse and zebrafish models lack typical features of ciliopathy. Included due to phenotypic overlap.
Created: 26 May 2021, 9:38 p.m. | Last Modified: 26 May 2021, 9:38 p.m.

Panel Version: 0.278

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 20, MIM# 617271; MONDO:0014997

Publications

Created: 26 May 2021, 9:38 p.m.
Last Modified: 26 May 2021, 9:38 p.m.
Panel version: 0.278

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Nephronophthisis 20, MIM# 617271
MONDO:0014997

OMIM

616786

Clinvar variants

Variants in MAPKBP1

Penetrance

None

Publications

Panels with this gene