| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Renal tubulopathies v3.3 | SEC61A1 |
Sarah Leigh Tag Q2_22_rating was removed from gene: SEC61A1. Tag Q2_22_phenotype was removed from gene: SEC61A1. Tag Q2_22_expert_review was removed from gene: SEC61A1. |
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| Renal tubulopathies v3.3 | SEC61A1 | Sarah Leigh reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v3.2 | SEC61A1 |
Sarah Leigh Source Expert Review Green was added to SEC61A1. Source NHS GMS was added to SEC61A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Renal tubulopathies v2.54 | SEC61A1 |
Eleanor Williams Tag Q2_21_phenotype was removed from gene: SEC61A1. Tag Q2_21_expert_review was removed from gene: SEC61A1. Tag Q2_22_phenotype tag was added to gene: SEC61A1. Tag Q2_22_expert_review tag was added to gene: SEC61A1. |
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| Renal tubulopathies v2.54 | SEC61A1 | Eleanor Williams Tag Q2_21_phenotype tag was added to gene: SEC61A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.54 | SEC61A1 | Eleanor Williams changed review comment from: Comment on list classification: Promoting from grey to amber. This gene should be reviewed to whether the phenotype is appropriate to this panel. There are sufficient cases with Autosomal dominant tubulointerstitial kidney to rate green.; to: Comment on list classification: Promoting from grey to amber. This gene should be reviewed to whether the associated disease phenotype fulfils the eligibility criteria for this panel. There are sufficient cases with Autosomal dominant tubulointerstitial kidney to rate green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.52 | SEC61A1 | Eleanor Williams changed review comment from: Comment on list classification: Promoting from grey to amber. This gene should be reviewed to whether the phenotype is appropriate to this panel; to: Comment on list classification: Promoting from grey to amber. This gene should be reviewed to whether the phenotype is appropriate to this panel. There are sufficient cases with Autosomal dominant tubulointerstitial kidney to rate green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.52 | SEC61A1 | Eleanor Williams Classified gene: SEC61A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.52 | SEC61A1 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber. This gene should be reviewed to whether the phenotype is appropriate to this panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.52 | SEC61A1 | Eleanor Williams Gene: sec61a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.51 | SEC61A1 | Eleanor Williams Publications for gene: SEC61A1 were set to PMID: 33185949; 27392076; 31488840 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.50 | SEC61A1 |
Eleanor Williams Tag Q2_21_expert_review tag was added to gene: SEC61A1. Tag Q2_22_rating tag was added to gene: SEC61A1. |
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| Renal tubulopathies v2.50 | SEC61A1 | Eleanor Williams reviewed gene: SEC61A1: Rating: ; Mode of pathogenicity: None; Publications: 33185949, 30586318, 27392076, 31488840; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.30 | SEC61A1 |
Detlef Bockenhauer gene: SEC61A1 was added gene: SEC61A1 was added to Renal tubulopathies. Sources: Literature Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61A1 were set to PMID: 33185949; 27392076; 31488840 Phenotypes for gene: SEC61A1 were set to hyporeninaemic hypoaldosteronism; autosomal dominant tubulointerstitial kidney disease Penetrance for gene: SEC61A1 were set to Complete Review for gene: SEC61A1 was set to GREEN Added comment: very few patients/families reported so far, so "green" status should be reviewed carefully Sources: Literature |
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