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Genetic epilepsy syndromes

Gene: STRADA

Green List (high evidence)

STRADA (STE20-related kinase adaptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000266173
EnsemblGeneIds (GRCh37): ENSG00000266173
OMIM: 608626, Gene2Phenotype
STRADA is in 4 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

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

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

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

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment on list classification

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to STRADA. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to STRADA. Panel: Genetic Epilepsy Syndromes

21 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: strada has been classified as Green List (High Evidence).

21 Jun 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: STRADA were set to 27170158; 17522105; 28688840; 20424326

21 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: strada has been classified as Red List (Low Evidence).

21 Jun 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: STRADA were set to 27170158; 17522105; 28688840

21 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

STRADA was added to Genetic Epilepsy Syndromes panel. Sources: Expert list

21 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

STRADA was created by Sarah Leigh