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Epileptic encephalopathy

Gene: MAPK10

Green List (high evidence)

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

5 reviews

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.
20 Jan 2016, 4:22 p.m.
Comment on mode of inheritance: Monoallelic confirmed on G2P, not on the imprinted gene list.
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.
20 Jan 2016, 1:36 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Epileptic Encephalopathy
  • EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE
OMIM
602897
Clinvar variants
Variants in MAPK10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MAPK10 were set to Epileptic Encephalopathy; EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE

20 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MAPK10 were set to PMID: 23329067

20 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MAPK10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MAPK10 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MAPK10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MAPK10 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MAPK10 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert