INTU

inturned planar cell polarity protein
OMIM: 610621, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green INTU in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.18

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • INTU-related skeletal ciliopathy, MONDO:1060154

Green INTU in Mendeliome


Version 2.588

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • INTU-related skeletal ciliopathy, MONDO:1060154

Green INTU in Skeletal Ciliopathies


Level 2: Skeletal disorders
Version 2.5

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • INTU-related skeletal ciliopathy, MONDO:1060154

Green INTU in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.151

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • INTU-related skeletal ciliopathy, MONDO:1060154

Green INTU in Fetal anomalies


Version 2.81

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • INTU-related skeletal ciliopathy, MONDO:1060154