Thoracic dystrophies
Gene: IFT140EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 17 panels
5 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JATD/MZSDS
Helen Brittain (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Two green reviews, green on the Unexplained skeletal dysplasia Version 1.32 gene panel, and >3 families/cases reported.Created: 25 May 2017, 10:34 a.m.
Hannah Mitchison (UCL and GOSH)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JATD/MZSDS
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Mainzer-Saldino Syndrome
- Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
- OMIM
- 614620
- Clinvar variants
- Variants in IFT140
- Penetrance
- Complete
- Publications
- 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
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
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IFT140 were set to Mainzer-Saldino Syndrome; Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IFT140 were set to 22503633
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)IFT140 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)IFT140 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services