ROBO1

roundabout guidance receptor 1
OMIM: 602430, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber ROBO1 in Pituitary hormone deficiency


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert review
Phenotypes
  • pituitary stalk interruption syndrome, MONDO:0019828
Red ROBO1 in Albinism or congenital nystagmus


Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • nystagmus, congenital, autosomal recessive, MONDO:0009762
No list ROBO1 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.173

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 3.135
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE Additional Gene List
    Phenotypes
    • tetralogy of Fallot and septal defects
    Green ROBO1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Intellectual disability, MONDO:0001071
    • Neurooculorenal syndrome, OMIM:620305
    Green ROBO1 in Severe Paediatric Disorders


    Version 1.182

    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