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  3. NT5C3A
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Nucleotide metabolism disorders

Gene: NT5C3A

Green List (high evidence)
NT5C3A (5'-nucleotidase, cytosolic IIIA)
EnsemblGeneIds (GRCh38): ENSG00000122643
EnsemblGeneIds (GRCh37): ENSG00000122643
OMIM: 606224, Gene2Phenotype
NT5C3A is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported.
Created: 13 Sep 2021, 11:12 a.m. | Last Modified: 13 Sep 2021, 11:12 a.m.
Panel Version: 0.9141

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120

Publications

Created: 13 Sep 2021, 11:12 a.m.
Last Modified: 13 Sep 2021, 11:12 a.m.
Panel version: Imported from Mendeliome panel version 0.9141

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association(see OMIM entry). Hemolytic anemia due to UMPH1 deficiency is an inborn error of pyrimidine metabolism.
Sources: NHS GMS
Created: 7 Feb 2021, 2:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anemia, hemolytic, due to UMPH1 deficiency MIM#266120; disorder of pyrimidine metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2021, 2:34 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.267

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • disorder of pyrimidine metabolism
  • Anemia, hemolytic, due to UMPH1 deficiency MIM#266120
OMIM
606224
Clinvar variants
Variants in NT5C3A
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: NT5C3A was added gene: NT5C3A was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C3A were set to 11369620 Phenotypes for gene: NT5C3A were set to disorder of pyrimidine metabolism; Anemia, hemolytic, due to UMPH1 deficiency MIM#266120