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  3. NT5E
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Nucleotide metabolism disorders

Gene: NT5E

Green List (high evidence)
NT5E (5'-nucleotidase ecto)
EnsemblGeneIds (GRCh38): ENSG00000135318
EnsemblGeneIds (GRCh37): ENSG00000135318
OMIM: 129190, Gene2Phenotype
NT5E is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Adult-onset calcification of the lower extremity arteries, including the iliac, femoral, and tibial arteries, and hand and foot capsule joints is an autosomal recessive condition that represents only the second mendelian disorder of isolated calcification. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands.

At least 3 unrelated families reported.
Created: 3 Dec 2021, 3:11 a.m. | Last Modified: 3 Dec 2021, 3:11 a.m.
Panel Version: 0.10014

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Calcification of joints and arteries, MIM# 211800

Publications

Created: 3 Dec 2021, 3:11 a.m.
Last Modified: 3 Dec 2021, 3:11 a.m.
Panel version: Imported from Mendeliome panel version 0.10014

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ectonucleotide and nucleic acid metabolism
  • hereditary arterial and articular multiple calcification syndrome MONDO:0008895
OMIM
129190
Clinvar variants
Variants in NT5E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NT5E was added gene: NT5E was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5E were set to 21288095 Phenotypes for gene: NT5E were set to Disorders of ectonucleotide and nucleic acid metabolism; hereditary arterial and articular multiple calcification syndrome MONDO:0008895