Renal ciliopathies
Gene: IFT140The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:22 a.m. | Last Modified: 8 Mar 2022, 11:22 a.m.
Panel Version: 1.59
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:44 a.m. | Last Modified: 8 Mar 2022, 10:44 a.m.
Panel Version: 1.51
Comment on mode of inheritance: Leaving the mode of inheritance as biallelic for now, but with a recommendation that it should be updated to BOTH monoallelic and biallelic following GMS review.Created: 14 Dec 2021, 11:57 a.m. | Last Modified: 14 Dec 2021, 11:57 a.m.
Panel Version: 1.45
As reported by John Sayer PMID: 34890546 (Senum et al 2021) reports 12 familial cases and 26 singletons with heterozygous variants in IFT140 and mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. The mode of inheritance should therefore be updated to be BOTH monoallelic and biallelic on this panel, and a green rating following GMS review.Created: 14 Dec 2021, 11:46 a.m. | Last Modified: 14 Dec 2021, 11:46 a.m.
Panel Version: 1.42
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Peter Harris identified monoallelic IFT140 loss-of-function (LoF) variants in 12 multiplex families and 26 singletons (1.9% of naive families). IFT140 is a core component of the intraflagellar transport-complex A, responsible for retrograde ciliary trafficking and ciliary entry of membrane proteins; bi-allelic IFT140 variants cause the syndromic ciliopathy, short-rib thoracic dysplasia (SRTD9). The distinctive monoallelic phenotype is mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. Analyses of the cystic kidney disease probands of Genomics England 100K showed that 2.1% had IFT140 LoF variants.Created: 11 Dec 2021, 10:27 a.m. | Last Modified: 11 Dec 2021, 10:27 a.m.
Panel Version: 1.42
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cystic kidney disease; cystic liver disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.Created: 19 Oct 2020, 2:29 p.m. | Last Modified: 19 Oct 2020, 2:29 p.m.
Panel Version: 1.29
Comment on list classification: Sufficient publications and external expert review an association of IFT140 variants and ciliopathic renal phenotype to rate IFT140 as Green.Created: 30 Mar 2020, 1:39 p.m. | Last Modified: 30 Mar 2020, 1:39 p.m.
Panel Version: 1.10
Comment on list classification: Sufficient publications and external expert review an association of IFT140 variants and ciliopathic renal phenotype to rate IFT140 as Green.Created: 30 Mar 2020, 1:39 p.m. | Last Modified: 30 Mar 2020, 1:39 p.m.
Panel Version: 1.10
Renal ciliopathy gene with phenotype of Mainzer-Saldino syndrome.
Nephronophthisis reported in multiple cases, with functional evidence (Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype).
Sources: Expert ReviewCreated: 3 Jan 2020, 4:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM #266920 (aka Mainzer-Saldino syndrome)
Publications
Tag Q4_21_MOI was removed from gene: IFT140. Tag Q4_21_NHS_review was removed from gene: IFT140.
Mode of inheritance for gene IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag for-review was removed from gene: IFT140.
Source Expert Review Green was added to IFT140. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM #266920 (aka Mainzer-Saldino syndrome) to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920; short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964; cystic kidney disease, MONDO:0002473
Publications for gene: IFT140 were set to PMID: 22503633, 23418020, 29706353
Tag Q4_21_MOI tag was added to gene: IFT140. Tag Q4_21_NHS_review tag was added to gene: IFT140.
Gene: ift140 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: IFT140.
Gene: ift140 has been classified as Green List (High Evidence).
Gene: ift140 has been classified as Green List (High Evidence).
gene: IFT140 was added gene: IFT140 was added to Renal ciliopathies. Sources: Expert Review Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT140 were set to PMID: 22503633, 23418020, 29706353 Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM #266920 (aka Mainzer-Saldino syndrome) Review for gene: IFT140 was set to GREEN