Activity
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6 actions
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| Proteinuric renal disease v2.41 | KIRREL1 | Eleanor Williams Classified gene: KIRREL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.41 | KIRREL1 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber. 2 cases plus some limited functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.41 | KIRREL1 | Eleanor Williams Gene: kirrel1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.40 | KIRREL1 | Eleanor Williams Phenotypes for gene: KIRREL1 were changed from Steroid-resistant nephrotic syndrome to steroid-resistant nephrotic syndrome MONDO:0044765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.39 | KIRREL1 | Eleanor Williams reviewed gene: KIRREL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31472902; Phenotypes: steroid-resistant nephrotic syndrome MONDO:0044765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.33 | KIRREL1 |
Zornitza Stark gene: KIRREL1 was added gene: KIRREL1 was added to Proteinuric renal disease. Sources: Literature Mode of inheritance for gene: KIRREL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIRREL1 were set to 31472902 Phenotypes for gene: KIRREL1 were set to Steroid-resistant nephrotic syndrome Review for gene: KIRREL1 was set to AMBER Added comment: Two unrelated families reported with bi-allelic variants and limited functional data. Sources: Literature |
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