ROBO1

roundabout guidance receptor 1
OMIM: 602430, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

No list ROBO1 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.169

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • unilateral kidney agenesis
    • bilateral kidney agenesis
    • vesicoureteral junction obstruction
    • vesicoureteral reflux
    • posterior urethral valve
    • genital malformation
    • increased kidney echogenicity

    Green ROBO1 in Fetal anomalies


    Version 1.905
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE Additional Gene List
    Phenotypes
    • tetralogy of Fallot and septal defects
    Tags
    • gene-checked

    No list ROBO1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • ROBO1-related NDD

    Green ROBO1 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • tetralogy of Fallot and septal defects