Limb disorders
Gene: IFT140
IFT140 (intraflagellar transport 140)
EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 17 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 10:53 p.m.
Details
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Phenotypes
-
- Polydactyly
- Tags
- OMIM
- 614620
- Clinvar variants
- Variants in IFT140
- Penetrance
- None
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Skeletal ciliopathies
- Skeletal dysplasia
- Clefting
- Respiratory ciliopathies including non-CF bronchiectasis
- Osteogenesis imperfecta
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Limb disorders
- Thoracic dystrophies
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: IFT140.
11 Dec 2018, Gel status: 0
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Comment on list classification
2 Dec 2018, Gel status: 0
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ift140 has been removed from the panel.
2 Dec 2018, Gel status: 0
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ift140 has been removed from the panel.
2 Dec 2018, Gel status: 0
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to IFT140. Rating Changed from Red List (low evidence) to No List (delete)
13 Aug 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)IFT140 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
13 Aug 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)IFT140 was created by Ellen McDonagh