Polydactyly
Gene: IFT140EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 10 families reported with a skeletal ciliopathy phenotype, including polydactyly.Created: 3 Jul 2021, 8:40 a.m. | Last Modified: 3 Jul 2021, 8:40 a.m.
Panel Version: 0.220
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
Publications
Anand Vasudevan (Royal Women's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
- OMIM
- 614620
- Clinvar variants
- Variants in IFT140
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Skeletal Dysplasia_Fetal
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Skeletal dysplasia
- Fetal anomalies
- Renal Macrocystic Disease
- Mendeliome
- Syndromic Retinopathy
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ift140 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: IFT140 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IFT140 was added gene: IFT140 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IFT140 was set to Unknown