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Prepair 1000+

Gene: IFT140

Green List (high evidence)

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

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- More than 10 families reported with a skeletal ciliopathy phenotype, onset in infancy

- Biallelic variants are also associated with Retinitis pigmentosa 80, MIM# 617781. OMIM notes night blindness in infancy or early childhood with progressive vision. However, from PMID: 26968735 and OMIM, age of onset and phenotype is variable. Does not seem severe enough to be included for prepair+?
Created: 2 Dec 2024, 4:10 a.m. | Last Modified: 2 Dec 2024, 4:10 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 9 with of without polydactyly (MIM#266920)

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ift140 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3) to Short-rib thoracic dysplasia 9 with of without polydactyly (MIM#266920)

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IFT140 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 or without polydactyly, 266920 (3)