IRX5

iroquois homeobox 5
OMIM: 606195, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green IRX5 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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

Green IRX5 in Mendeliome


Version 2.0

2 reviews 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 2.0

1 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 1.0

1 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 2.0

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