Monogenic short stature
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
0 reviews
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
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal ciliopathies
- Clefting
- Limb disorders
- Skeletal dysplasia
- Monogenic short stature
- Retinal disorders
- Intellectual disability
- Ductal plate malformation
- IUGR and IGF abnormalities
- Fetal anomalies
- DDG2P
- Pituitary hormone deficiency
- Thoracic dystrophies
- Rare multisystem ciliopathy disorders
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: IFT172 was added gene: IFT172 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT172 were set to 25664603 Phenotypes for gene: IFT172 were set to GH deficiency, retinopathy, metaphyseal dysplasia