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Renal ciliopathies v4.7 IFT140 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 25th Feb 2026.
Renal ciliopathies v4.7 IFT140 Ida Ertmanska Phenotypes for gene: IFT140 were changed from 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 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; {Polycystic kidney disease 9, susceptibility to}, OMIM:621164
Renal ciliopathies v1.59 IFT140 Eleanor Williams Tag Q4_21_MOI was removed from gene: IFT140.
Tag Q4_21_NHS_review was removed from gene: IFT140.
Renal ciliopathies v1.59 IFT140 Eleanor Williams commented on gene: IFT140: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.58 IFT140 Eleanor Williams Mode of inheritance for gene IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal ciliopathies v1.53 IFT140 Eleanor Williams Tag for-review was removed from gene: IFT140.
Renal ciliopathies v1.51 IFT140 Eleanor Williams commented on gene: IFT140: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Renal ciliopathies v1.50 IFT140 Eleanor Williams Source Expert Review Green was added to IFT140.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v1.45 IFT140 Eleanor Williams Added comment: 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.
Renal ciliopathies v1.45 IFT140 Eleanor Williams Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v1.44 IFT140 Eleanor Williams 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
Renal ciliopathies v1.43 IFT140 Eleanor Williams Publications for gene: IFT140 were set to PMID: 22503633, 23418020, 29706353
Renal ciliopathies v1.42 IFT140 Eleanor Williams Tag Q4_21_MOI tag was added to gene: IFT140.
Tag Q4_21_NHS_review tag was added to gene: IFT140.
Renal ciliopathies v1.42 IFT140 Eleanor Williams reviewed gene: IFT140: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal ciliopathies v1.42 IFT140 John Sayer reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.ajhg.2021.11.016; Phenotypes: Cystic kidney disease, cystic liver disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Renal ciliopathies v1.29 IFT140 Arina Puzriakova Classified gene: IFT140 as Amber List (moderate evidence)
Renal ciliopathies v1.29 IFT140 Arina Puzriakova Added comment: 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.
Renal ciliopathies v1.29 IFT140 Arina Puzriakova Gene: ift140 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v1.16 IFT140 Eleanor Williams Tag for-review tag was added to gene: IFT140.
Renal ciliopathies v1.10 IFT140 Catherine Snow Classified gene: IFT140 as Green List (high evidence)
Renal ciliopathies v1.10 IFT140 Catherine Snow Added comment: Comment on list classification: Sufficient publications and external expert review an association of IFT140 variants and ciliopathic renal phenotype to rate IFT140 as Green.
Renal ciliopathies v1.10 IFT140 Catherine Snow Gene: ift140 has been classified as Green List (High Evidence).
Renal ciliopathies v1.10 IFT140 Catherine Snow Classified gene: IFT140 as Green List (high evidence)
Renal ciliopathies v1.10 IFT140 Catherine Snow Added comment: Comment on list classification: Sufficient publications and external expert review an association of IFT140 variants and ciliopathic renal phenotype to rate IFT140 as Green.
Renal ciliopathies v1.10 IFT140 Catherine Snow Gene: ift140 has been classified as Green List (High Evidence).
Renal ciliopathies v1.0 IFT140 chirag patel 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
Added comment: 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 Review