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Mendeliome

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Calcification of joints and arteries, MIM# 211800
OMIM
129190
Clinvar variants
Variants in NT5E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nt5e has been classified as Green List (High Evidence).

3 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NT5E were changed from to Calcification of joints and arteries, MIM# 211800

3 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NT5E were set to

3 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NT5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NT5E was added gene: NT5E was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NT5E was set to Unknown