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  3. NT5E
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Fetal anomalies

Gene: NT5E

Red List (low evidence)
NT5E (5'-nucleotidase ecto)
EnsemblGeneIds (GRCh38): ENSG00000135318
EnsemblGeneIds (GRCh37): ENSG00000135318
OMIM: 129190, Gene2Phenotype
NT5E is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

New gene added to this panel with a Red rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

Red List (low evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green in Skeletal panel. Calcification of joints and arteries. Noted as late onset. Checked OMIM all later onset. Red
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arterial calcification; joint calcification

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • arterial calcification
  • joint calcification
OMIM
129190
Clinvar variants
Variants in NT5E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: NT5E was added gene: NT5E was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5E were set to 21288095; 32522903; 28825389; 26178434; 34999808; 27045881; 26010187 Phenotypes for gene: NT5E were set to arterial calcification; joint calcification