Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Gene: STRADAEnsemblGeneIds (GRCh38): ENSG00000266173
EnsemblGeneIds (GRCh37): ENSG00000266173
OMIM: 608626, Gene2Phenotype
STRADA is in 10 panels
2 reviews
Seb Lunke (Victorian Clinical Genetics Services)
Comment on list classification: megalencephaly link well established, but no conclusive evidence of hemi-megalencephalyCreated: 26 Aug 2020, 7:20 a.m. | Last Modified: 26 Aug 2020, 7:20 a.m.
Panel Version: 0.21
Paul De Fazio (Victorian Clinical Genetics Services)
Associated with PMSE (Polyhydramnios, megalencephaly, and symptomatic epilepsy). Link to TSC seems tenuous and is limited to the authors of PMID: 17522105 citing similarities to TSC in histological findings in an individual with biallelic STRADA deletions, and the fact that this gene is implicated in the mTORC pathway. However megalencephaly is a common characteristic in almost all patients (summarised in PMID: 27170158). Reported patients include 7 distantly-related Mennonite children with the same 7kb deletion, plus two other separate unrelated individuals.
This gene is an upstream inhibitor of mTORC1. Treatment with rapamycin reduces seizures in a mouse model (PMID: 23616120).Created: 26 Aug 2020, 2:23 a.m. | Last Modified: 26 Aug 2020, 7:17 a.m.
Panel Version: 0.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyhydramnios, megalencephaly, and symptomatic epilepsy (MIM#611087)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- Phenotypes
-
- Polyhydramnios, megalencephaly, and symptomatic epilepsy (MIM#611087)
- OMIM
- 608626
- Clinvar variants
- Variants in STRADA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Macrocephaly_Megalencephaly
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Prepair 1000+
- Mendeliome
- Renal Tubulopathies and related disorders
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: STRADA were changed from to Polyhydramnios, megalencephaly, and symptomatic epilepsy (MIM#611087)
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: strada has been classified as Amber List (Moderate Evidence).
Set publications
Seb Lunke (Victorian Clinical Genetics Services)Publications for gene: STRADA were set to
Set mode of inheritance
Seb Lunke (Victorian Clinical Genetics Services)Mode of inheritance for gene: STRADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: strada has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: STRADA was added gene: STRADA was added to Tuberous sclerosis, cortical dysplasia and hemimegalencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: STRADA was set to Unknown