| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Proteinuric renal disease v2.71 | DAAM2 | Eleanor Williams Tag for-review was removed from gene: DAAM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.66 | DAAM2 | Eleanor Williams commented on gene: DAAM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.65 | DAAM2 |
Eleanor Williams Source Expert Review Green was added to DAAM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Proteinuric renal disease v2.39 | DAAM2 | Eleanor Williams Classified gene: DAAM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.39 | DAAM2 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, with the recommendation of a green rating following GMS review. 4 unrelated cases, with different variants in DAAM2 in patients with steroid-resistant nephrotic syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.39 | DAAM2 | Eleanor Williams Gene: daam2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.38 | DAAM2 | Eleanor Williams Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.38 | DAAM2 | Eleanor Williams Tag for-review tag was added to gene: DAAM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.38 | DAAM2 | Eleanor Williams Classified gene: DAAM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.38 | DAAM2 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, with the recommendation of a green rating following GMS review. 4 unrelated cases, with different variants in DAAM2 in patients with steroid-resistant nephrotic syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.38 | DAAM2 | Eleanor Williams Gene: daam2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.37 | DAAM2 | Eleanor Williams Phenotypes for gene: DAAM2 were changed from Steroid-resistant nephrotic syndrome (SRNS) to steroid-resistant nephrotic syndrome MONDO:0044765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.33 | DAAM2 |
Zornitza Stark gene: DAAM2 was added gene: DAAM2 was added to Proteinuric renal disease. Sources: Literature Mode of inheritance for gene: DAAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAAM2 were set to 33232676 Phenotypes for gene: DAAM2 were set to Steroid-resistant nephrotic syndrome (SRNS) Review for gene: DAAM2 was set to GREEN Added comment: - steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis on histologic analysis of kidney biopsies and foot process effacement shown by electron microscopy (authors have suggested the term nephrotic syndrome type 22 (NPHS22)) - 4 unrelated families, 3 of which were consanguineous - 4 unique missense and 1 stop - in vitro studies for the missense variants Sources: Literature |
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