Skeletal ciliopathies
Gene: IFT140EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 17 panels
1 review
Alice Gardham (Genomics England)
Offered on GOS ciliopathy panelCreated: 19 Jan 2017, 2:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly 266920
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
- Phenotypes
-
- Saldino-Mainzer syndrome
- Jeune syndrome
- Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
- Mainzer-Saldino Syndrome
- Short-rib thoracic dysplasia 9 with or without polydactyly
- OMIM
- 614620
- Clinvar variants
- Variants in IFT140
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Osteogenesis imperfecta
- Clefting
- Retinal disorders
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: IFT140 was added gene: IFT140 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT140 were set to 22503633 Phenotypes for gene: IFT140 were set to Saldino-Mainzer syndrome; Jeune syndrome; Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Mainzer-Saldino Syndrome; Short-rib thoracic dysplasia 9 with or without polydactyly