| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Proteinuric renal disease v1.121 | SCARB2 | Eleanor Williams Phenotypes for gene: SCARB2 were changed from to Action myoclonus renal failure syndrome; Epilepsy, progressive myoclonic 4, with or without renal failure #254900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.120 | SCARB2 | Eleanor Williams Publications for gene: SCARB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.16 | SCARB2 | Eleanor Williams reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: ; Publications: https://doi.org/10.1186/1471-2377-11-134, 22032306; Phenotypes: Epilepsy, progressive myoclonic 4, with or without renal failure #254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | SCARB2 |
Eleanor Williams Source NHS GMS was added to SCARB2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||