Retinal 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
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Genetic Retinal Degeneration Conditions
- OMIM
- 614620
- Clinvar variants
- Variants in IFT140
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Retinal disorders
- DDG2P
- Clefting
- Osteogenesis imperfecta
- 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
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to IFT140. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IFT140 was changed to BIALLELIC, autosomal or pseudoautosomal
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)IFT140 was created by ellenmcdonagh
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)IFT140 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green