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| Tubulointerstitial kidney disease v0.14 | MUC1 | Eleanor Williams Added comment: Comment on publications: Added PMID: 23946964 Bleyer and Kmoch, last updated 2016. Gene reviews entry on Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.14 | MUC1 | Eleanor Williams Publications for gene: MUC1 were set to 23396133; 29967284; 29156055; 29520014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.13 | MUC1 | Eleanor Williams Added comment: Comment on publications: Added PMID: 29520014 Wenzel et al 2018 which describes long read single molecule real time sequencing (SMRT) targeted to the MUC1-VNTR as an alternative strategy to the snapshot assay. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.13 | MUC1 | Eleanor Williams Publications for gene: MUC1 were set to 23396133; 29967284; 29156055 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.11 | MUC1 | Anna de Burca Classified gene: MUC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.11 | MUC1 | Anna de Burca Added comment: Comment on list classification: Rated as green due to numerous reports of variants within VNTR associated with mutant protein and single report of 2bp deletion outside VNTR with equivalent effect on protein. Note: variants within VNTR are unlikely to be detected by NGS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.11 | MUC1 | Anna de Burca Gene: muc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.6 | MUC1 | Eleanor Williams Classified gene: MUC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.6 | MUC1 | Eleanor Williams Added comment: Comment on list classification: Changing the rating from Green to Amber as only 1 mutation has been found outside of the VNTR region. SNVs within the VNTR are unlikely to be detected by WGS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.6 | MUC1 | Eleanor Williams Gene: muc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.5 | MUC1 | Eleanor Williams Publications for gene: MUC1 were set to 23396133 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.4 | MUC1 | Eleanor Williams commented on gene: MUC1: PMID: 29156055 (Yamamoto et al 2017) report a 2-bp deletion in MUC1 in a family with autosomal dominant tubulointerstitial kidney disease. It was found by exome sequencing and is located before the VNTR. The resulting mutant MUC1 protein had a very similar amino acid sequence and predicted 3D structure to the previously reported mutant protein | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.4 | MUC1 |
Eleanor Williams commented on gene: MUC1: PMID: 29967284 (Živná et al 2018) - developed immunohistochemical methods to detect the MUC1fs created by the cytosine duplication and, possibly, by other similar frameshift mutations. Found six families with five novel MUC1 frameshift mutations within the VNTR units that all predict production of the identical MUC1fs protein that is found in patients with the 27dupC duplication. All 191 affected families reported to date produce the same frameshifted protein. |
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| Tubulointerstitial kidney disease v0.4 | MUC1 | Eleanor Williams commented on gene: MUC1: PMID: 23396133 (Kirby et al 2013) describe 6 families with an insertion of a single C in one copy (but a different copy in each family) of the repeat unit comprising the extremely long (~1.5-5 kb), GC-rich (>80%), coding VNTR in the mucin 1 gene. The insertion results in a frameshift which is predicted to produce a mutant protein that contains many copies of a novel repeat sequence but which lacks, owing to a novel stop codon shortly beyond the VNTR terminus, the downstream SEA self-cleavage module and both transmembrane and intracellular domains characteristic of the normal MUC1 precursor protein. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.3 | MUC1 | Eleanor Williams reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: Kirby et al 2013 PMID: 23396133; Phenotypes: Medullary cystic kidney disease 1 MIM 174000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.2 | MUC1 |
Eleanor Williams gene: MUC1 was added gene: MUC1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MUC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MUC1 were set to 23396133 Phenotypes for gene: MUC1 were set to Medullary cystic kidney disease 1 MIM 174000 Mode of pathogenicity for gene: MUC1 was set to Other - please provide details in the comments |
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