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  3. IFT140
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Skeletal dysplasia

Gene: IFT140

Green List (high evidence)
IFT140 (intraflagellar transport 140)
EnsemblGeneIds (GRCh38): ENSG00000187535
EnsemblGeneIds (GRCh37): ENSG00000187535
OMIM: 614620, Gene2Phenotype
IFT140 is in 15 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts.

Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781
Created: 7 Jan 2022, 3:22 a.m. | Last Modified: 7 Jan 2022, 3:22 a.m.
Panel Version: 0.10552

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; Cystic Kidney Disease, MONDO# 0002473

Publications

Created: 7 Jan 2022, 3:22 a.m.
Last Modified: 7 Jan 2022, 3:22 a.m.
Panel version: Imported from Mendeliome panel version 0.10552

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported with each ciliopathy phenotype.
Created: 3 Jul 2021, 8:37 a.m. | Last Modified: 3 Jul 2021, 8:37 a.m.
Panel Version: 0.8177

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781

Publications

Created: 3 Jul 2021, 8:37 a.m.
Last Modified: 3 Jul 2021, 8:37 a.m.
Panel version: Imported from Mendeliome panel version 0.8177

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
OMIM
614620
Clinvar variants
Variants in IFT140
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IFT140 was added gene: IFT140 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Green 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 of without polydactyly, 266920