IRX5

iroquois homeobox 5
OMIM: 606195, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green IRX5 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hamamy syndrome MIM#611174

Green IRX5 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hamamy syndrome, MIM# 611174
  • cone dystrophy, MONDO:0000455
Tags
  • SV/CNV

Green IRX5 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hamamy syndrome, MIM# 611174

Amber IRX5 in Cone-rod Dystrophy


Level 2: Ophthalmological disorders
Version 0.54

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • cone dystrophy, MONDO:0000455
    Tags
    • SV/CNV

    Green IRX5 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Hamamy syndrome, MIM# 611174