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  2. Cystic kidney disease
  3. MAPKBP1
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Cystic 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 7 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Sufficient cases
Created: 28 Mar 2019, 12:39 p.m.
Created: 28 Mar 2019, 12:39 p.m.

Panel version: 1.40

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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.
Sources: Expert list
Created: 28 Mar 2019, 12:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NEPHRONOPHTHISIS 20

Publications

Created: 28 Mar 2019, 12:15 p.m.

Panel version: 1.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • NEPHRONOPHTHISIS 20
OMIM
616786
Clinvar variants
Variants in MAPKBP1
Penetrance
None
Publications
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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

gene: MAPKBP1 was added gene: MAPKBP1 was added to Cystic kidney disease. 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