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  2. Renal ciliopathies
  3. MAPKBP1
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Renal ciliopathies

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

8 affected patients in 5 different families identified. Only published Jan 2017
Created: 25 Jan 2017, 2:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 20 617271

Publications

Created: 25 Jan 2017, 2:45 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.475

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephronophthisis 20 617271
OMIM
616786
Clinvar variants
Variants in MAPKBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

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 ciliopathies. Sources: Literature,Expert Review Green 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 617271