Ductal plate malformation
Gene: IFT140EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 17 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Short-rib thoracic dysplasia 9 with or without polydactyly (266920)
- Tags
- OMIM
- 614620
- Clinvar variants
- Variants in IFT140
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- DDG2P
- Intellectual disability
- Osteogenesis imperfecta
- Clefting
- Retinal disorders
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: IFT140.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: New gene name is CPLANE
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to IFT140. Rating Changed from Amber List (moderate evidence) to No List (delete)
Added New Source, Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Illumina TruGenome Clinical Sequencing Services was added to IFT140. Source UKGTN was added to IFT140. Source Expert list was added to IFT140. Rating Changed from No List (delete) to Amber List (moderate evidence)
Clear Sources
Ivone Leong (Genomics England Curator)All sources for gene: IFT140 were removed
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: IFT140 was added gene: IFT140 was added to Ductal plate malformation (DPM). Sources: UKTGN,Illumina TruGenome Clinical Sequencing Services,Expert list Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly (266920)