Epileptic encephalopathy
Gene: DYRK1AEnsemblGeneIds (GRCh38): ENSG00000157540
EnsemblGeneIds (GRCh37): ENSG00000157540
OMIM: 600855, Gene2Phenotype
DYRK1A is in 8 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- van Bon et al (2015) Molecular Psychiatry 1-7
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
Publications
- van Bon et al (2015) Molecular Psychiatry 1-7
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
Publications
- van Bon et al (2015) Molecular Psychiatry 1-7
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
Publications
- van Bon et al (2015) Molecular Psychiatry 1-7
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on phenotypes: Sourced from gene2phenotype.Created: 17 Dec 2015, 3:30 p.m.
Comment on mode of inheritance: Checked imprinted gene list and gene2phenotype.Created: 17 Dec 2015, 3:30 p.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).Created: 12 Nov 2015, 4:01 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
- OMIM
- 600855
- Clinvar variants
- Variants in DYRK1A
- Penetrance
- Complete
- Publications
- 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).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DYRK1A were set to PMID: 25707398; 21294719; 23160955; 23099646
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DYRK1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)DYRK1A was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Richard Scott (North Thames GMC/UCL)DYRK1A was added to Epileptic encephalopathypanel. Sources: Expert Review
Created
Richard Scott (North Thames GMC/UCL)DYRK1A was created by Reviewer_03