Early onset or syndromic epilepsy
Gene: STRADA

STRADA (STE20-related kinase adaptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000266173
EnsemblGeneIds (GRCh37): ENSG00000266173
OMIM: 608626, Gene2Phenotype
STRADA is in 6 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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

Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 21 Jun 2018, 1:06 p.m.

Panel version: 0.768

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Wessex and West Midlands GLH
NHS GMS
NIHRBR-RD Consortium SPEED_v3.0_20170404
Victorian Clinical Genetics Services
Expert Review Green
Expert list

Phenotypes

Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087

OMIM

608626

Clinvar variants

Variants in STRADA

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to STRADA.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to STRADA.

11 Dec 2018, Gel status: 4