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Fetal anomalies

Gene: STRADA

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 4:40 p.m. | Last Modified: 1 Feb 2021, 4:40 p.m.
Panel Version: 1.547

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Hydrocephalus). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Sources: Literature
Created: 28 Jan 2021, 2:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyhydramnios, megalencephaly, and symptomatic epilepsy

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Tags
for-review
OMIM
608626
Clinvar variants
Variants in STRADA
Penetrance
None
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: strada has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: STRADA.

28 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rhiannon Mellis (Great Ormond Street Hospital)

gene: STRADA was added gene: STRADA was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy Review for gene: STRADA was set to GREEN