Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: MAPK10

Red List (low evidence)

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

9 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Also known as JNK3 - Shoichet et al 2006 - truncation of the gene (exon 10-14 del) with developmental epileptic encephalopathy due to de novo balanced translocation disrupting this gene. OMIM states it to be a VUS as its contribution to epilepsy has not been confirmed.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
Unknown

Phenotypes
epileptic encephalopathy

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: The the variant RCV000007138 has been reclassified in OMIM to a variant of unknown significance due to lack of evidence for the gene disease association.
Created: 8 Nov 2018, 4:33 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

I am not sure what evidence the previous reviews were based on, but please note that the variant described in Shoichet et al has been re-classified as a VOUS in OMIM. A further patient with a translocation is reported by Kunde et al, but I cannot find any other evidence of disease association, and hence I don't believe there is sufficient evidence for gene-disease association. The other 4 reviewers appear to practice at the same centre, and are presumably reporting the gene is on a single diagnostic panel rather than 4 different ones.
Created: 16 Aug 2018, 11:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This is a possible DD gene, however 4 reviewers agree and all report variants within this gene as part of their current diagnostic practice.
Created: 20 Jan 2016, 4:22 p.m.
Comment on mode of inheritance: Monoallelic confirmed on G2P, not on the imprinted gene list.
Created: 20 Jan 2016, 1:37 p.m.
Comment on list classification: 4 reviewers agree this should be on the green gene. It is a "Possible DD gene" on G2P.
Created: 20 Jan 2016, 1:36 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Epileptic Encephalopathy
  • EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE
OMIM
602897
Clinvar variants
Variants in MAPK10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MAPK10.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MAPK10.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on list classification

8 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mapk10 has been classified as Red List (Low Evidence).

8 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mapk10 has been classified as Red List (Low Evidence).

8 Nov 2018, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MAPK10 were set to PMID: 23329067

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

MAPK10 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,Illumina TruGenome Clinical Sequencing Services

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

MAPK10 was created by Sarah Leigh