Renal Ciliopathies and Nephronophthisis

Gene: IFT140

Green List (high evidence)

368 patients with IFT140 LoF variants and a spectrum of phenotypic findings that support the association of IFT140 with PKD. A cystic phenotype was reported in 223 of the 368 (60.6%) individuals harboring an IFT140 LoF variant, 98% of which had no other identified cause for their cystic disease. Of 122 unique LoF IFT140 variants identified, 56 (46%) were frameshift, 38 (31%) nonsense, 22 (18%) splice site and 6 (5%) exon-level deletions. Only six IFT140 individuals were reported with end-stage kidney disease, consistent with observed milder clinical presentations in IFT140-related PKD.

Created: 15 Aug 2024, 9:16 p.m. | Last Modified: 15 Aug 2024, 9:16 p.m.

Panel Version: 1.23

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cystic Kidney Disease, MONDO# 0002473

Publications

• PMID: 39136524

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

Green List (high evidence)

PMID 34890546: 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, where renal cysts are a feature, with early progressive renal disease.

Created: 7 Jan 2022, 7:30 a.m. | Last Modified: 7 Jan 2022, 7:30 a.m.

Panel Version: 1.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant

Publications

• 22503633
• 23418020
• 34890546