1. Genes and Genomic Entities
  2. INTU

INTU

inturned planar cell polarity protein
OMIM: 610621, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber INTU in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • SRPS
Red INTU in Ductal plate malformation


Version 1.31

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Short-rib thoracic dysplasia 20 with polydactyly (617925)
  • ?Orofaciodigital syndrome XVII (617926)
Red INTU in Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.14

review Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Green INTU in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • ?Short-rib thoracic dysplasia 20 with polydactyly, 617925
Green INTU in Skeletal ciliopathies


Level 2: Musculoskeletal
Version 6.5
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

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