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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. |
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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) |
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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 |