Ophthalmological ciliopathies
Gene: IFT172EnsemblGeneIds (GRCh38): ENSG00000138002
EnsemblGeneIds (GRCh37): ENSG00000138002
OMIM: 607386, Gene2Phenotype
IFT172 is in 17 panels
1 review
Alice Gardham (Genomics England)
Reasonable number of case reports and good animal models. Offered on GOS ciliopathy panel and recognised on G2PCreated: 19 Jan 2017, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 10 with or without polydactyly 615630
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
- Phenotypes
-
- Retinitis pigmentosa 71, 616394
- Short-rib thoracic dysplasia 10 with or without polydactyly
- Saldino-Mainzer syndrome
- Jeune syndrome
- Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
- OMIM
- 607386
- Clinvar variants
- Variants in IFT172
- Penetrance
- None
- Publications
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: IFT172 was added gene: IFT172 was added to Ophthalmological ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT172 were set to 24140113 Phenotypes for gene: IFT172 were set to Retinitis pigmentosa 71, 616394; Short-rib thoracic dysplasia 10 with or without polydactyly; Saldino-Mainzer syndrome; Jeune syndrome; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630