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| Proteinuric renal disease v4.1 | FN1 |
Eleanor Williams commented on gene: FN1: Looking at reports of End-stage renal disease and the age of onset: PMID: 18268355 - Castelletti et al 2008 - 3 members of the same extended family are reported to have ESRF at ages 74, 32 and 34. PMID: 27056061- Ohtsubo et al 2016 - 1 patient with ESRD at 34 years, and one other at age 49. PMID: 31419955 - Gonçalves Dos Reis Monteiro et al 2019 - the father and son reported do not appear to have ESRD. |
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| Proteinuric renal disease v2.71 | FN1 | Eleanor Williams Phenotypes for gene: FN1 were changed from Glomerulopathy with fibronectin deposits 2, 601894 to Glomerulopathy with fibronectin deposits 2, OMIM:601894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.70 | FN1 | Eleanor Williams Tag for-review was removed from gene: FN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.66 | FN1 | Eleanor Williams commented on gene: FN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.65 | FN1 |
Eleanor Williams Source Expert Review Green was added to FN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Proteinuric renal disease v2.31 | FN1 | Catherine Snow Classified gene: FN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.31 | FN1 | Catherine Snow Added comment: Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.31 | FN1 | Catherine Snow Gene: fn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.26 | FN1 | Eleanor Williams Phenotypes for gene: FN1 were changed from Glomerulopathy with fibronectin deposits 2, MIM# 601894 to Glomerulopathy with fibronectin deposits 2, 601894 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.25 | FN1 | Eleanor Williams Publications for gene: FN1 were set to 18268355 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.24 | FN1 | Eleanor Williams Classified gene: FN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.24 | FN1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to green. More than 3 unrelated cases with FN1 variants reported in patients with Glomerulopathy with Fibronectin Deposits, which has proteinuria as a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.24 | FN1 | Eleanor Williams Gene: fn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.23 | FN1 | Eleanor Williams Tag for-review tag was added to gene: FN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.23 | FN1 | Eleanor Williams reviewed gene: FN1: Rating: ; Mode of pathogenicity: None; Publications: 18268355, 27056061, 31419955; Phenotypes: Glomerulopathy with Fibronectin Deposits 2, 601894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.0 | FN1 |
Zornitza Stark gene: FN1 was added gene: FN1 was added to Proteinuric renal disease. Sources: Expert list Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FN1 were set to 18268355 Phenotypes for gene: FN1 were set to Glomerulopathy with fibronectin deposits 2, MIM# 601894 Review for gene: FN1 was set to GREEN gene: FN1 was marked as current diagnostic Added comment: Six unrelated families reported; mostly a nephrotic picture with some haematuria. Sources: Expert list |
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