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| Tubulointerstitial kidney disease v1.18 | SEC61A1 | Eleanor Williams Phenotypes for gene: SEC61A1 were changed from Familial juvenile Hyperuricemic nephropathy-4 MIM 617056 to Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.17 | SEC61A1 | Eleanor Williams Tag for-review was removed from gene: SEC61A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.16 | SEC61A1 | Eleanor Williams commented on gene: SEC61A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note that 2 variants associated with kidney disease on HGMD (reported by Bolar et al. 2016). Zebrafish model shows that knockdown of sec61a1 results in a phenotype consistent with tubular atrophy. Variants in the gene result in abnormal intracellular localisation and aggregation (IHC of patient derived kidney biopsy) or decreased protein levels (transfection of HEK293 cells). They are also unable to rescue the tubular atrophy phenotype in zebrafish embryos with morpholino knockdown of the sec61a1 otholog (Bolar et al. 2016) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.15 | SEC61A1 |
Eleanor Williams Source Expert Review Green was added to SEC61A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Tubulointerstitial kidney disease v1.11 | SEC61A1 | Arina Puzriakova Classified gene: SEC61A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.11 | SEC61A1 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.11 | SEC61A1 | Arina Puzriakova Gene: sec61a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.9 | SEC61A1 | Eleanor Williams Tag for-review tag was added to gene: SEC61A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.9 | SEC61A1 | Eleanor Williams Classified gene: SEC61A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.9 | SEC61A1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from Amber to Green. Two familial cases reported in Bolar publication plus animal model. Further case reported in Groopman. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.9 | SEC61A1 | Eleanor Williams Gene: sec61a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.8 | SEC61A1 | Eleanor Williams Publications for gene: SEC61A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.7 | SEC61A1 |
Eleanor Williams commented on gene: SEC61A1: PMID: 30586318 - Groopman et al 2019 - Patient CKD184 in Table S7 has a heterozygous missense variant p.I428M in SEC61A1. The genetic diagnosis was Hyperuricemic nephropathy familial juvenile 4. PMID: 27392076 Bolar et al 2016 - report on two families with ADTKD and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. Exclusion of known ADTKD genes coupled with linkage analysis, whole-exome sequencing, and targeted re-sequencing identified heterozygous missense variants in SEC61A1-c.553A>G (p.Thr185Ala) and c.200T>G (p.Val67Gly). Zebrafish model re-capitulated the phenotype and could not be rescued by mRNA with the pathogenic alleles. |
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| Tubulointerstitial kidney disease v1.0 | SEC61A1 | Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30586318; Phenotypes: Familial juvenile Hyperuricemic nephropathy-4 MIM 617056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.0 | SEC61A1 | Eleanor Williams edited their review of gene: SEC61A1: Added comment: Upgrading review rating to green, the Groopman paper increases the number of cases to 3.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v1.0 | SEC61A1 | Eleanor Williams edited their review of gene: SEC61A1: Added comment: Further case reported in Groopman et al 2019 (PMID: 30586318); Changed phenotypes: Familial juvenile Hyperuricemic nephropathy-4 MIM 617056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.3 | SEC61A1 | Eleanor Williams reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial juvenile Hyperuricemic nephropathy-4 MIM 617056 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.2 | SEC61A1 |
Eleanor Williams gene: SEC61A1 was added gene: SEC61A1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEC61A1 were set to Familial juvenile Hyperuricemic nephropathy-4 MIM 617056 |
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