Skeletal dysplasia
Gene: IFT172EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 17 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Cilliopathies with major skeletal involvement gp of SDs - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SRTD10; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IFT172; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:55 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly 615630
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
- SRTD10
- OMIM
- 607386
- Clinvar variants
- Variants in IFT172
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Retinal disorders
- DDG2P
- Clefting
- Monogenic short stature
- Ductal plate malformation
- Skeletal ciliopathies
- IUGR and IGF abnormalities
- Skeletal dysplasia
- Fetal anomalies
- Pituitary hormone deficiency
- Thoracic dystrophies
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; SRTD10 for gene: IFT172
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to IFT172. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for IFT172 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)IFT172 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)IFT172 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)IFT172 was created by sleigh