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| Unexplained young onset end-stage renal disease v0.36 | SEC61A1 | Eleanor Williams Classified gene: SEC61A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.36 | SEC61A1 | Eleanor Williams Added comment: Comment on list classification: Changing rating to green. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper (1 case) and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.36 | SEC61A1 | Eleanor Williams Gene: sec61a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.35 | SEC61A1 | Eleanor Williams Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.35 | SEC61A1 | Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076; to: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper (1 case) and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.35 | SEC61A1 | Eleanor Williams Publications for gene: SEC61A1 were set to 27392076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.34 | SEC61A1 | Eleanor Williams Classified gene: SEC61A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.34 | SEC61A1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.34 | SEC61A1 | Eleanor Williams Gene: sec61a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.33 | SEC61A1 |
Eleanor Williams gene: SEC61A1 was added gene: SEC61A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61A1 were set to 27392076 Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4 617056 Added comment: Adding gene to panel at suggestion of Genomics England clinical team Sources: Other |
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