| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Proteinuric renal disease v2.73 | YRDC | Eleanor Williams Phenotypes for gene: YRDC were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome MONDO:0009627 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.72 | YRDC | Eleanor Williams Tag for-review was removed from gene: YRDC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.66 | YRDC | Eleanor Williams commented on gene: YRDC: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.65 | YRDC |
Eleanor Williams Source Expert Review Green was added to YRDC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Proteinuric renal disease v2.44 | YRDC | Eleanor Williams Classified gene: YRDC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.44 | YRDC | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, based on 2 cases plus some functional data. At the next GMS review it could be considered for green rating based on the external expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.44 | YRDC | Eleanor Williams Gene: yrdc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.43 | YRDC | Eleanor Williams Tag for-review tag was added to gene: YRDC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.43 | YRDC | Eleanor Williams reviewed gene: YRDC: Rating: AMBER; Mode of pathogenicity: None; Publications: 31481669; Phenotypes: Galloway-Mowat syndrome MONDO:0009627; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.26 | YRDC |
Zornitza Stark gene: YRDC was added gene: YRDC was added to Proteinuric renal disease. Sources: Literature Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YRDC were set to 31481669 Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome Review for gene: YRDC was set to GREEN gene: YRDC was marked as current diagnostic Added comment: Three individuals from two unrelated families with typical features of Galloway-Mowat syndrome including proteinuria, microcephaly, developmental delay and brain malformations. Supportive functional data. Sources: Literature |
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