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Limb disorders

Gene: MAPKAPK5

Amber List (moderate evidence)

MAPKAPK5 (mitogen-activated protein kinase-activated protein kinase 5)
EnsemblGeneIds (GRCh38): ENSG00000089022
EnsemblGeneIds (GRCh37): ENSG00000089022
OMIM: 606723, Gene2Phenotype
MAPKAPK5 is in 2 panels

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

MAPKAPK5 is not yet associated with any phenotype in OMIM (last edited on 06/04/2016) but has a 'probable' disease confidence rating for 'MAPKAPK5-associated syndrome with synpolydactyly' in Gene2Phenotype.

- PMID: 33442026 (2021) - 3 individuals from 2 families with severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with an additional hypoplastic digit between the fourth and fifth digits of hands and/or feet. Exome sequencing identified different homozygous truncating variants in MAPKAPK5 in both families, segregating with disease and unaffected parents as carriers.

Patient-derived cells showed no expression of MAPKAPK5 protein isoforms and reduced levels of the MAPKAPK5-interacting protein ERK3. F-actin recovery after latrunculin B treatment was found to be less efficient in patient-derived fibroblasts than in control cells, supporting a role of MAPKAPK5 in F-actin polymerization.

Rating Amber, awaiting further cases.
Sources: Literature
Created: 30 Apr 2021, 9:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism; Synpolydactyly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism
  • Synpolydactyly
OMIM
606723
Clinvar variants
Variants in MAPKAPK5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mapkapk5 has been classified as Amber List (Moderate Evidence).

30 Apr 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: MAPKAPK5 was added gene: MAPKAPK5 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKAPK5 were set to 33442026 Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism; Synpolydactyly Review for gene: MAPKAPK5 was set to AMBER