PanelApp (staging)
  1. Genes and Genomic Entities
  2. ROBO1

ROBO1

roundabout guidance receptor 1
OMIM: 602430, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ROBO1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.145

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurooculorenal syndrome, MIM# 620305

    Green ROBO1 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.430

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tetralogy of Fallot
    • septal defects

    Green ROBO1 in Mendeliome


    Version 1.2302

    		1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303
    • Nystagmus 8, congenital, autosomal recessive, MIM# 257400
    • Neurooculorenal syndrome, MIM# 620305

    Green ROBO1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurooculorenal syndrome, MIM# 620305

    Green ROBO1 in Pituitary hormone deficiency


    Level 2: Endocrine disorders
    Version 0.35

    		2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303

    Red ROBO1 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • nystagmus, congenital, autosomal recessive, MONDO:0009762

    Green ROBO1 in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Tetralogy of Fallot and septal defects
    • Congenital heart disease, MONDO:0005453