Early onset or syndromic epilepsy
Gene: DYRK1A
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: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AD MR 7, seizures are a feature. Van Bon et al, 2011 - de novo het deletion, O'Roak et al, 2012 - 3 de novo mutations (2 fs 1 splice site), Coucet et al, 2012 - de novo het truncating variant. Evers et al, 2017 - 19 de novo mutations in this gene, including 5 missense identified by DDD. 8/19 had seizures.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation 7,614104
Publications
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.
Source Wessex and West Midlands GLH was added to DYRK1A.
Source NHS GMS was added to DYRK1A.
Ellen McDonagh: Gene added in expert review of
Victorian Clinical Genetics Services was added to DYRK1A. Panel: Genetic Epilepsy Syndromes
DYRK1A was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review
DYRK1A was created by Sarah Leigh