Cytopenias and congenital anaemias
Gene: NT5C3AComment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 10 variants reported.Created: 9 Mar 2017, 11:51 a.m.
Comment on phenotypes: Enzyme Disorder; Hemolytic anemia due to pyrimidine 5' nucleotidase deficiencyCreated: 9 Mar 2017, 11:49 a.m.
Comment on publications: 12930399 (3 unrelated cases), 12714505 (2 unrelated cases), 11369620 (3 unrelated cases)Created: 1 Mar 2017, 3:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enzyme Disorder; Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Phenotypes for NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency 266120
NT5C3A was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
Publications for NT5C3A were set to 12930399;12714505; 11369620
Phenotypes for NT5C3A were set to Enzyme Disorder; Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency;Anemia, hemolytic, due to UMPH1 deficiency, 266120;
NT5C3A was created by LouiseD
NT5C3A was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN