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Cystic kidney disease v3.4 IFT140 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: IFT140.
Tag Q2_22_NHS_review was removed from gene: IFT140.
Cystic kidney disease v3.4 IFT140 Achchuthan Shanmugasundram reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cystic kidney disease v3.3 IFT140 Achchuthan Shanmugasundram Source Expert Review Green was added to IFT140.
Source NHS GMS was added to IFT140.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v2.45 IFT140 John Sayer reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 34890546; Phenotypes: cystic kidney disease, cystic liver disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cystic kidney disease v2.45 IFT140 Eleanor Williams Tag Q2_22_NHS_review tag was added to gene: IFT140.
Cystic kidney disease v2.45 IFT140 Eleanor Williams Tag Q2_22_rating tag was added to gene: IFT140.
Cystic kidney disease v2.45 IFT140 Eleanor Williams Classified gene: IFT140 as Amber List (moderate evidence)
Cystic kidney disease v2.45 IFT140 Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber with a recommendation for GREEN rating following GMS review.
Cystic kidney disease v2.45 IFT140 Eleanor Williams Gene: ift140 has been classified as Amber List (Moderate Evidence).
Cystic kidney disease v2.44 IFT140 Eleanor Williams Phenotypes for gene: IFT140 were changed from Cystic kidney disease; chronic kidney disease 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
Cystic kidney disease v2.43 IFT140 Eleanor Williams Publications for gene: IFT140 were set to 34890546
Cystic kidney disease v2.42 IFT140 Eleanor Williams Added comment: Comment on mode of inheritance: As reviewer notes there are several biallelic cases reported with a renal phenotype (e.g. PMID: 23418020 - 3 patients with renal cysts and biallelic IFT140 variants, PMID: 27874174 - 1 patient with renal cysts and biallelic IFT140 variants) aswell as the monallelic variants reported in PMID:34890546
Cystic kidney disease v2.42 IFT140 Eleanor Williams Mode of inheritance for gene: IFT140 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cystic kidney disease v2.31 IFT140 Zornitza Stark reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 34890546; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, MONDO:0009964, Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cystic kidney disease v2.31 IFT140 Anna de Burca reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 34890546; Phenotypes: Autosomal dominant polycystic kidney disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v2.27 IFT140 Daniel Gale gene: IFT140 was added
gene: IFT140 was added to Cystic kidney disease. Sources: Literature,Research
Mode of inheritance for gene: IFT140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFT140 were set to 34890546
Phenotypes for gene: IFT140 were set to Cystic kidney disease; chronic kidney disease
Penetrance for gene: IFT140 were set to unknown
Review for gene: IFT140 was set to GREEN
Added comment: Very strong evidence of association of truncating IFT140 mutations and cystic kidney disease in cited paper, which includes 12 multiplex families and 26 singletons. In addition, hypothesis-free region-based variance testing (SKAT-O) independently identifying truncating variants in this gene in 100,000 Genomes Project (p=3.5e-17) and UK BioBank (p=4.5e-15) participants with cystic kidney disease (see https://genebass.org/gene/undefined/phenotype/icd_first_occurrence-132532-both_sexes--?resultIndex=gene-manhattan&resultLayout=full for UKBB analysis).
Sources: Literature, Research