Limb disorders
Gene: IFT172
IFT172 (intraflagellar transport 172)
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 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, 10:54 p.m.
Details
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Phenotypes
-
- Polydactyly
- Tags
- OMIM
- 607386
- Clinvar variants
- Variants in IFT172
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Monogenic short stature
- Clefting
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- IUGR and IGF abnormalities
- Fetal anomalies
- Pituitary hormone deficiency
- Thoracic dystrophies
- Skeletal dysplasia
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: IFT172.
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: ift172 has been removed from the panel.
2 Dec 2018, Gel status: 0
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ift172 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 IFT172. 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)IFT172 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
13 Aug 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)IFT172 was created by Ellen McDonagh