Epileptic encephalopathy
Gene: DYRK1A
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Publications for DYRK1A were set to PMID: 25707398; 21294719; 23160955; 23099646
Phenotypes for DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Mode of inheritance for DYRK1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
DYRK1A was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
DYRK1A was added to Epileptic encephalopathypanel. Sources: Expert Review
DYRK1A was created by Reviewer_03