Phenotypic overlap with cranioectodermal dysplasia (IFT122 gene). Perrault et al 2012 report 2 patients from 1 family with CSS. Pena-Padilla et al 2017 report an infant with trigonocephaly. Amber/green - 3 cases but only 2 families? Added by GOSH - Bayat et al (2017) reported patient with evolving craniofacial phenotype, striking brachydactyly and sensenbrenner syndrome ; Review on behalf of Tracy Lester/Andrew Wilkie/GOSH
Created: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Short-rib thoracic dysplasia with or without polydactyly; asphyxiating thoracic dysplasia (ATD,Jeune)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IFT140; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Short-rib thoracic dysplasia with or without polydactyly; asphyxiating thoracic dysplasia (ATD,Jeune) for gene: IFT140
gene: IFT140 was added gene: IFT140 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: IFT140 was set to