BPNT1

3'(2'), 5'-bisphosphate nucleotidase 1
OMIM: 604053, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green BPNT1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.7

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Megaloblastic anemia MONDO:0001700, BPNT1-related

    Green BPNT1 in Mendeliome


    Version 2.76

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Megaloblastic anemia MONDO:0001700, BPNT1-related