Epileptic encephalopathy
Gene: MAPK10EnsemblGeneIds (GRCh38): ENSG00000109339
EnsemblGeneIds (GRCh37): ENSG00000109339
OMIM: 602897, Gene2Phenotype
MAPK10 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
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)
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)
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)
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
-
- 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
-
- PMID: 23329067
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MAPK10 were set to Epileptic Encephalopathy; EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MAPK10 were set to PMID: 23329067
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MAPK10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)MAPK10 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
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
Added New Source
Ellen McDonagh (Genomics England Curator)MAPK10 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)MAPK10 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert