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Intellectual disability

Gene: MAPK10

Amber List (moderate evidence)

MAPK10 (mitogen-activated protein kinase 10)
EnsemblGeneIds (GRCh38): ENSG00000109339
EnsemblGeneIds (GRCh37): ENSG00000109339
OMIM: 602897, Gene2Phenotype
MAPK10 is in 4 panels

5 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Only evidence comes from translocation cases reported in 2006 and 2013. Cannot find reports of SNVs. No P/LP variants reported in ClinVar. Rated Red on other panels as far as I can see.
Created: 7 Mar 2020, 5:14 a.m. | Last Modified: 7 Mar 2020, 5:14 a.m.
Panel Version: 3.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; seizures

Publications

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Small amount of evidence for variants in this gene with an isolated ID presentation. Watchlist tag added.
Created: 8 Mar 2018, 3:24 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

added watchlist tag
Created: 8 Mar 2018, 3:21 p.m.
Comment on list classification: Changed from Red to Amber after clinical review comments
Created: 8 Mar 2018, 3:21 p.m.
After clinical review it was thought this gene should rated Amber. HB commented that PMID 23329067 details two cases with translocations where the breakpoints include MAPK10. One presented with ID in the absence of seizures, although cannot find wider support for this hypothesis. Worth marking as amber and watchlist on the ID panel.
Created: 8 Mar 2018, 3:20 p.m.
Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies and is a severe form of epilepsy associated with intractable seizures and impaired cognition. Although there is enough evidence to support the phenotype, MAPK10 is a candidate gene tested for this disorder and variants within this gene are reported as part of current diagnostic practice.
Created: 7 Mar 2018, 11:09 a.m.
Comment on phenotypes: added phenotype from Orphanet and Gene2Phenotype
Created: 7 Mar 2018, 11:07 a.m.
Monoallelic confirmed on G2P, not on the imprinted gene list. This is a possible DD gene in Gene2Phenotype for EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE
Created: 7 Mar 2018, 11 a.m.
I am not sure if this should be a Green on the Intellectual Disability panel since it epilepsy associated with intractable seizures that result in the mental deterioration, ID is not independently present? It is currently rated Green on the Epilepsy Plus and Epileptic encephalopathy panels. To be reviewed by internal clinical team as to wether this gene should be Green on ID panel.
Created: 7 Mar 2018, 10:57 a.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE (EELG)

Publications

  • 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Expert Review Red
Phenotypes
  • Lennox-Gastaut syndrome
  • LGS
  • Epileptic Encephalopathy
  • Epileptic Encephalopathy Lennox-Gastaut type
Tags
watchlist
OMIM
602897
Clinvar variants
Variants in MAPK10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to MAPK10. Panel: Intellectual disability Model of inheritance for gene MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene MAPK10 was set to ['23329067']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MAPK10 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MAPK10 was created by ellenmcdonagh