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Fetal anomalies

Gene: MAPKAPK5

Green List (high evidence)
MAPKAPK5 (mitogen-activated protein kinase-activated protein kinase 5)
EnsemblGeneIds (GRCh38): ENSG00000089022
EnsemblGeneIds (GRCh37): ENSG00000089022
OMIM: 606723, Gene2Phenotype
MAPKAPK5 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Not green in any panel on panel app. PMID:33442026 - 3 individuals, two families. PMID:35575217 - 1 unrelated individual, reviews all cases. 4 in total 3 families. Neurological, cardiac, and facial anomalies combined with fingers and toes malformations. Complex congenital genitourinary anomalies reported and MAPKAPK5 literature review, we also propose kidney and external genitalia involvement also propesed. Specific prenatal info 35575217 The 20_weeks of gestation (WG) fetal scan showed prefrontal edema, nasal bone hypoplasia, increased nuchal translucency, suspicious of aortic coarctation and ambiguous genitalia. PMID:33442026 - Patient 1 Fetal ultrasound examination of affected individual 1 indicated intrauterine growth retardation and tetralogy of Fallot (TF). Patient 2 no scan anomalies mentioned but had cardiac defect adn abnormal brain MRI at 18months cavum of septum pellucidum, dilatation of lateral ventricles, thin arched corpus callosum, prominent cerebellar folia, mild vermian hypoplasia, and fourth ventricle communicating with extra axial CSF. Patient 3 A hypoplastic left heart was diagnosed by prenatal ultrasound examination. Clearly presenting prenatally 4 individuals in 3 families. Green
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurocardiofaciodigital syndrome, OMIM:619869
OMIM
606723
Clinvar variants
Variants in MAPKAPK5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: MAPKAPK5. Tag Q3_24_NHS_review was removed from gene: MAPKAPK5.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to MAPKAPK5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: MAPKAPK5. Tag Q3_24_NHS_review tag was added to gene: MAPKAPK5.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MAPKAPK5 was added gene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKAPK5 were set to 35575217; 33442026 Phenotypes for gene: MAPKAPK5 were set to Neurocardiofaciodigital syndrome, OMIM:619869