Activity
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12 actions
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| Cystic kidney disease v8.8 | CFAP47 | Ida Ertmanska Tag gene-checked tag was added to gene: CFAP47. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v8.7 | CFAP47 | Arina Puzriakova Tag Q4_24_promote_green was removed from gene: CFAP47. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v8.7 | CFAP47 | Achchuthan Shanmugasundram commented on gene: CFAP47: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v8.6 | CFAP47 |
Arina Puzriakova Source NHS GMS was added to CFAP47. Source Expert Review Green was added to CFAP47. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cystic kidney disease v7.10 | CFAP47 | Achchuthan Shanmugasundram Tag Q4_24_promote_green tag was added to gene: CFAP47. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v7.10 | CFAP47 | Achchuthan Shanmugasundram Classified gene: CFAP47 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v7.10 | CFAP47 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases and functional work) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v7.10 | CFAP47 | Achchuthan Shanmugasundram Gene: cfap47 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v7.9 | CFAP47 | Achchuthan Shanmugasundram Phenotypes for gene: CFAP47 were changed from PKD to polycystic kidney disease, MONDO:0020642 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v7.8 | CFAP47 | Achchuthan Shanmugasundram Publications for gene: CFAP47 were set to PMID: 38633811 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v7.7 | CFAP47 | Achchuthan Shanmugasundram reviewed gene: CFAP47: Rating: GREEN; Mode of pathogenicity: None; Publications: 39698362; Phenotypes: polycystic kidney disease, MONDO:0020642; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v7.7 | CFAP47 |
Dmitrijs Rots gene: CFAP47 was added gene: CFAP47 was added to Cystic kidney disease. Sources: Literature Mode of inheritance for gene: CFAP47 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CFAP47 were set to PMID: 38633811 Phenotypes for gene: CFAP47 were set to PKD Penetrance for gene: CFAP47 were set to unknown Mode of pathogenicity for gene: CFAP47 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CFAP47 was set to GREEN Added comment: Three cases & some functional work described in PMID: 38633811 (now published). Sources: Literature |
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