STRADA

STE20-related kinase adaptor alpha
OMIM: 608626, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green STRADA in Hydrocephalus


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
Green STRADA in Nephrocalcinosis or nephrolithiasis


Level 2: Renal
Version 5.5
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
    Green STRADA in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
    • Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
    Green STRADA in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
    Green STRADA in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review 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
    Green STRADA in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM:611087 (includes mental retardation)
    • severe psychomotor retardation
    Tags
    • deletions