Early onset or syndromic epilepsy
Gene: STRADA
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
AR polyhydroamnios, megalencephaly and symptomatic epilepsy. Puffenberger et al, 2007 - 16 distantly related old order Mennonite children - all had seizures, Bi et al, 2016 - child of consanguineous parents - had seizures - hom truncating variant.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
Publications
Comment on list classification: Gene originally listed on the Intellectual disability panel V2.42.
Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in unrelated cases, together with supportive functional studies (PMID 20424326).Created: 21 Jun 2018, 1:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087
Publications
Source Wessex and West Midlands GLH was added to STRADA.
Source NHS GMS was added to STRADA.
Sarah Leigh: Comment on list classification
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to STRADA. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to STRADA. Panel: Genetic Epilepsy Syndromes
Gene: strada has been classified as Green List (High Evidence).
Publications for gene: STRADA were set to 27170158; 17522105; 28688840; 20424326
Gene: strada has been classified as Red List (Low Evidence).
Publications for gene: STRADA were set to 27170158; 17522105; 28688840
STRADA was added to Genetic Epilepsy Syndromes panel. Sources: Expert list
STRADA was created by Sarah Leigh