BPGM

bisphosphoglycerate mutase
OMIM: 613896, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber BPGM in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrocytosis, familial, 8, MIM# 222800

Red BPGM in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Erythrocytosis due to bisphosphoglycerate mutase deficiency

Amber BPGM in Red cell disorders


Level 2: Haematological disorders
Version 1.24

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Erythrocytosis, familial, 8, MIM# 222800

Red BPGM in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Erythrocytosis due to bisphosphoglycerate mutase deficiency