Activity
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13 actions
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| Likely inborn error of metabolism v7.12 | NT5E |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: NT5E. Tag Q3_24_NHS_review was removed from gene: NT5E. |
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| Likely inborn error of metabolism v7.12 | NT5E | Sarah Leigh edited their review of gene: NT5E: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.12 | NT5E |
Sarah Leigh Source Expert Review Green was added to NT5E. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v6.7 | NT5E |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: NT5E. Tag Q3_24_NHS_review tag was added to gene: NT5E. |
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| Likely inborn error of metabolism v6.7 | NT5E | Sarah Leigh edited their review of gene: NT5E: Added comment: NT5E variants have been associated with Calcification of joints and arteries (OMIM:211800), but not with a phenotype in Gen2Phen. At least nine biallelic NT5E variants have been identified in at least 6 unrelated cases of OMIM:211800 (PMID: 21288095; 26010187;28825389; 32522903; 34999808; 26178434; 27045881).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.7 | NT5E | Sarah Leigh Added comment: Comment on publications: PMID: 38199067 reports a cell line made including the variant NT5E c.1126A>G, p.T376A. However, PMID: 37754297 points out the ACMG classification for this variant would be Benign. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.7 | NT5E | Sarah Leigh Publications for gene: NT5E were set to 21288095; 26010187; 28825389; 32522903; 34999808; 26178434; 27045881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.6 | NT5E | Sarah Leigh Publications for gene: NT5E were set to 21288095; 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.5 | NT5E | Sarah Leigh Phenotypes for gene: NT5E were changed from arterial calcification; joint calcification to Calcification of joints and arteries, OMIM:211800; hereditary arterial and articular multiple calcification syndrome, MONDO:0008895 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.4 | NT5E | Sarah Leigh Publications for gene: NT5E were set to 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.3 | NT5E | Sarah Leigh Classified gene: NT5E as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.3 | NT5E | Sarah Leigh Gene: nt5e has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.1 | NT5E |
Tracy Lester gene: NT5E was added gene: NT5E was added to Likely inborn error of metabolism. Sources: NHS GMS Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5E were set to 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881 Phenotypes for gene: NT5E were set to arterial calcification; joint calcification Review for gene: NT5E was set to GREEN Added comment: Several cases have been reported in the literature with late onset calcification of the extremity arteries and hand and foot joint capsules, and biallelic variants in NT5E. Variant pathogenicity supported by familial and functional studies. Sources: NHS GMS |
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