IUGR and IGF abnormalities
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
2 reviews
Peter Clayton (University of Manchester)
Mehul Dattani (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- GH deficiency, retinopathy, metaphyseal dysplasia
- OMIM
- 607386
- Clinvar variants
- Variants in IFT172
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Skeletal ciliopathies
- Retinal disorders
- Clefting
- Ophthalmological ciliopathies
- Renal ciliopathies
- Monogenic short stature
- Intellectual disability
- Pituitary hormone deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- DDG2P
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Skeletal dysplasia
- Thoracic dystrophies
- Limb disorders
History Filter Activity
25 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
25 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
26 Oct 2015, Gel status: 0
Created
Mehul Dattani (UCL Institute of Child Health)IFT172 was created by mdattani
26 Oct 2015, Gel status: 0
Added New Source
Mehul Dattani (UCL Institute of Child Health)IFT172 was added to IUGR and IGF abnormalitiespanel. Sources: Expert Review,Literature