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Intellectual disability

Gene: STRADA

Green List (high evidence)

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

Reported ID link but currently insufficient cases to reach diagnostic threshold. Mental retardation phenotype is listed in the Clinical synopsis for MIM:611087, and PMID:27170158 report a 5 yr old boy with PMSE (MIM:611087), global DD, severe psychomotor retardation, and a homozygous 1-bp duplication in STRADA. PMID:17522105 report PMSE and severe psychomotor retardation in a group of 7 distantly related Old Order Mennonite children. All patients had a deletion encompassing exons 9-13 of the STRADA (LYK5) gene.
Created: 31 Oct 2017, 9:23 a.m.

Phenotypes
Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM:611087 (includes mental retardation); severe psychomotor retardation

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_epilepsies . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:35 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_epilepsies; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • omim.org

Louise Daugherty (Genomics England Curator)

Comment on publications: added publication PMID: 28688840 three unrelated families with consistent phenotypes, enough evidence to promote to Green
Created: 16 Jul 2018, 10:08 a.m.
removed watchist tag
Created: 16 Jul 2018, 10:06 a.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 2:06 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM:611087 (includes mental retardation)
  • severe psychomotor retardation
Tags
deletions
OMIM
608626
Clinvar variants
Variants in STRADA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

16 Jul 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

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

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene STRADA was set to ['27170158', ' 17522105']

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

STRADA was created by BRIDGE

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

STRADA was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene