INTU

inturned planar cell polarity protein
OMIM: 610621, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green INTU in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Orofaciodigital syndrome XVII MIM#617926
  • ?Short-rib thoracic dysplasia 20 with polydactyly MIM#617925

Green INTU in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Orofaciodigital syndrome XVII MIM#617926
  • ?Short-rib thoracic dysplasia 20 with polydactyly

Green INTU in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Orofaciodigital syndrome XVII MIM#617926
  • Short-rib thoracic dysplasia 20 with polydactyly MIM#617925