Thoracic dystrophies
Gene: IFT172EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 17 panels
3 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Phenotypes
Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases. Expert review green.Created: 25 May 2017, 12:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY SRTD10 #615630
Hannah Mitchison (UCL and GOSH)
Phenotypes
Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
- OMIM
- 607386
- Clinvar variants
- Variants in IFT172
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Monogenic short stature
- Clefting
- Retinal disorders
- Ductal plate malformation
- Skeletal ciliopathies
- IUGR and IGF abnormalities
- Fetal anomalies
- Pituitary hormone deficiency
- Thoracic dystrophies
- Skeletal dysplasia
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for IFT172 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)IFT172 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen