| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Unexplained young onset end-stage renal disease v0.27 | CRB2 | Eleanor Williams Publications for gene: CRB2 were set to 25557780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.26 | CRB2 | Eleanor Williams changed review comment from: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 paper and green on Renal ciliopathies and Proteinuric renal disease panels.; to: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Renal ciliopathies and Proteinuric renal disease panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.26 | CRB2 | Eleanor Williams Classified gene: CRB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.26 | CRB2 | Eleanor Williams Added comment: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 paper and green on Renal ciliopathies and Proteinuric renal disease panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.26 | CRB2 | Eleanor Williams Gene: crb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.25 | CRB2 | Eleanor Williams Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease 219730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.24 | CRB2 |
Eleanor Williams gene: CRB2 was added gene: CRB2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRB2 were set to 25557780 Added comment: Gene suggested for addition to this panel by Genomics England clinical team. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||