Likely inborn error of metabolism

Gene: NT5E

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 25 Feb 2025, 9:09 a.m. | Last Modified: 25 Feb 2025, 9:09 a.m.

Panel Version: 7.12

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).

Created: 10 Sep 2024, 4:45 p.m. | Last Modified: 10 Sep 2024, 4:45 p.m.

Panel Version: 6.7

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.

Created: 10 Sep 2024, 4:45 p.m. | Last Modified: 10 Sep 2024, 4:45 p.m.

Panel Version: 6.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

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

Created: 22 Aug 2024, 1:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arterial calcification; joint calcification

Publications

• 26010187
• 28825389
• 32522903
• 34999808
• 38199067
• 26178434
• 27045881