Rare multisystem ciliopathy disorders
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
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Other
- Orphanet
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
- Jeune syndrome
- Saldino-Mainzer syndrome
- Short-rib thoracic dysplasia 9 with or without polydactyly
- Mainzer-Saldino Syndrome
- OMIM
- 614620
- Clinvar variants
- Variants in IFT140
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- DDG2P
- Clefting
- Osteogenesis imperfecta
- Retinal disorders
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for IFT140 were set to 22503633
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, 266920;Jeune syndrome;Saldino-Mainzer syndrome;Short-rib thoracic dysplasia 9 with or without polydactyly;Mainzer-Saldino Syndrome
Upload gene information
Ellen McDonagh (Genomics England Curator)IFT140 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)IFT140 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)IFT140 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)IFT140 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)IFT140 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
Added New Source
Ellen McDonagh (Genomics England Curator)IFT140 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)IFT140 was created by ellenmcdonagh