INTU

inturned planar cell polarity protein
OMIM: 610621, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber INTU in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	Not set	Sources Expert Review Amber Expert Review Phenotypes SRPS
Red INTU in Ductal plate malformation Version 1.29	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 1.9	review	Not set	Sources Literature Phenotypes anorectal malformation
Green INTU in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	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 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 4.3 Latest signed off version: v4.0 (1 May 2024) 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
Green INTU in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 ?Orofaciodigital syndrome XVII, 617926