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Prepair 1000+

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 5 panels

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

Juvenile or late-onset cilia-independent nephronophthisis.

9 unrelated families reported. Mouse and zebrafish models lack typical features of ciliopathy.

PMID 28089251: 8 patients from 5 families who were chet or hom with nephronophthisis-20. Youngest age of individual with end stage renal disease was 12yo.
Created: 9 Apr 2025, 5:51 a.m. | Last Modified: 9 Apr 2025, 5:51 a.m.
Panel Version: 1.1868

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 20, MIM# 617271; MONDO:0014997

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Nephronophthisis 20, MIM# 617271
  • MONDO:0014997
OMIM
616786
Clinvar variants
Variants in MAPKBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAPKBP1 were changed from Nephronophthisis 20, 617271 (3), Autosomal recessive to Nephronophthisis 20, MIM# 617271; MONDO:0014997

24 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAPKBP1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAPKBP1 was added gene: MAPKBP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, 617271 (3), Autosomal recessive