Clefting
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
1 review
Helen Brittain (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
- SRTD10
- OMIM
- 607386
- Clinvar variants
- Variants in IFT172
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- DDG2P
- Monogenic short stature
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Limb disorders
- Ductal plate malformation
- Retinal disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Intellectual disability
- Thoracic dystrophies
- Skeletal ciliopathies
- Pituitary hormone deficiency
- Clefting
- Skeletal dysplasia
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)IFT172 was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)IFT172 was created by ellenmcdonagh