Renal Macrocystic Disease

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: 0.70

IFT140 LoF variants ONLY

Created: 15 Aug 2022, 3:46 a.m. | Last Modified: 15 Aug 2022, 3:46 a.m.

Panel Version: 0.52

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)

12 unrelated families reported with monoallelic variants causing mild polycystic kidney disease with large cysts, limited kidney insufficiency, and few liver cysts.
Sources: Literature

Created: 7 Jan 2022, 3:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cystic Kidney Disease, MONDO# 0002473

Publications

• 34890546