Ductal plate malformation
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 Removed
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Short-rib thoracic dysplasia 10 with or without polydactyly (615630)
- Tags
- OMIM
- 607386
- Clinvar variants
- Variants in IFT172
- Penetrance
- None
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: IFT172.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: New gene name is CPLANE
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to IFT172. Rating Changed from Amber List (moderate evidence) to No List (delete)
6 Nov 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: IFT172 was added gene: IFT172 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly (615630)