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Fetal anomalies

Gene: MAPKBP1

Red List (low 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

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sahar Mansour (St George's Hospital, London)

Red List (low evidence)

1 report only (8 individuals in 5 families), no fetal phenotype.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 20, MIM#617271

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

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

History Filter Activity

20 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MAPKBP1 was added gene: MAPKBP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red 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, OMIM:617271