Miscellaneous Metabolic Disorders
Gene: NT5C3AEnsemblGeneIds (GRCh38): ENSG00000122643
EnsemblGeneIds (GRCh37): ENSG00000122643
OMIM: 606224, Gene2Phenotype
NT5C3A is in 5 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association(see OMIM entry). Hemolytic anemia due to UMPH1 deficiency is an inborn error of pyrimidine metabolism.
Sources: NHS GMSCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Anemia, hemolytic, due to UMPH1 deficiency MIM#266120
- disorder of pyrimidine metabolism
- OMIM
- 606224
- Clinvar variants
- Variants in NT5C3A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nt5c3a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nt5c3a has been classified as Green List (High Evidence).
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 Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C3A were set to 11369620; 11369620 Phenotypes for gene: NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency MIM#266120; disorder of pyrimidine metabolism Review for gene: NT5C3A was set to GREEN gene: NT5C3A was marked as current diagnostic