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Intellectual disability

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Rating Amber, awaiting further cases (added watchlist tag)

- PMID: 33442026 report on 2 unrelated families with a comparable phenotype including severe GDD, who harbour different homozygous truncating variants in MAPKAPK5. Some functional evidence indicating the variants impact expression and function of MAPKAPK5 protein.

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.
Created: 30 Apr 2021, 9:23 a.m. | Last Modified: 30 Apr 2021, 9:23 a.m.
Panel Version: 3.1045

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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.

Borderline Amber/Green but high impact variants and a distinctive phenotype with some functional data.
Sources: Literature
Created: 19 Apr 2021, 8:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

30 Apr 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: MAPKAPK5.

30 Apr 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MAPKAPK5 were set to 3344202

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).

19 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MAPKAPK5 was added gene: MAPKAPK5 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKAPK5 were set to 3344202 Phenotypes for gene: MAPKAPK5 were set to Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism Review for gene: MAPKAPK5 was set to GREEN gene: MAPKAPK5 was marked as current diagnostic