STRADA:Ensemblv115

STE20 related adaptor alpha
OMIM: 608626, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber STRADA in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy (MIM#611087)

Green STRADA in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green STRADA in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green STRADA in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611

Green STRADA in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive

Green STRADA in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611

Green STRADA in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy MIM#611087

Green STRADA in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Literature
  • Expert Review Green
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy
  • OMIM #611087