Nucleotide metabolism disorders
Gene: NT5C3A
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
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
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