Craniosynostosis

Gene: IFT140

Red List (low evidence)

IFT140 (intraflagellar transport 140)
EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 14 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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

Phenotypes
Short-rib thoracic dysplasia with or without polydactyly; asphyxiating thoracic dysplasia (ATD,Jeune)

Eleanor Williams (Genomics England Curator)

I don't know

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.

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Short-rib thoracic dysplasia with or without polydactyly; asphyxiating thoracic dysplasia (ATD,Jeune) for gene: IFT140

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: IFT140 was added gene: IFT140 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: IFT140 was set to