Renal ciliopathies
Gene: IFT172EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 17 panels
4 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:44 a.m. | Last Modified: 8 Mar 2022, 10:44 a.m.
Panel Version: 1.51
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.Created: 19 Oct 2020, 2:31 p.m. | Last Modified: 19 Oct 2020, 2:31 p.m.
Panel Version: 1.30
Catherine Snow (Genomics England)
Comment on list classification: A number of publications identify relationship of variants in IFT172 and phenotypes associated with Bardet-Biedl syndrome and Jeune and Mainzer-Saldino Syndromes, all are ciliopathy diseases. The range of phenotypes can result in serve skeletal and multiple affected organs but also includes a reported case of non-syndromic retinal dystrophy.
Sufficient numbers of unrelated individuals reported to have kidney dysfunction to include IFT172 as Green on the panel.Created: 30 Mar 2020, 1:28 p.m. | Last Modified: 30 Mar 2020, 1:28 p.m.
Panel Version: 1.9
Zornitza Stark (Australian Genomics)
Nephronophthisis is a recognised feature of this ciliopathy.
Sources: Expert listCreated: 3 Jan 2020, 4:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630
- OMIM
- 607386
- Clinvar variants
- Variants in IFT172
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal dysplasia
- Retinal disorders
- Clefting
- Monogenic short stature
- Ductal plate malformation
- IUGR and IGF abnormalities
- Renal ciliopathies
- Pituitary hormone deficiency
- Limb disorders
- Thoracic dystrophies
- Fetal anomalies
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: IFT172 were changed from Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 to Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: IFT172.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to IFT172. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ift172 has been classified as Amber List (Moderate Evidence).
Added Tag
Eleanor Williams (Genomics England Curator)Tag for-review tag was added to gene: IFT172.
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: ift172 has been classified as Green List (High Evidence).
Set publications
Catherine Snow (Genomics England)Publications for gene: IFT172 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: IFT172 was added gene: IFT172 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Review for gene: IFT172 was set to GREEN