BPNT1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green BPNT1 in Mendeliome


Version 2.210

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

Green BPNT1 in Red cell disorders


Level 2: Haematological disorders
Version 2.4

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