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Additional findings_Paediatric

Gene: BPGM

Red List (low evidence)

BPGM (bisphosphoglycerate mutase)
EnsemblGeneIds (GRCh38): ENSG00000172331
EnsemblGeneIds (GRCh37): ENSG00000172331
OMIM: 613896, Gene2Phenotype
BPGM is in 4 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Erythrocytosis due to bisphosphoglycerate mutase deficiency
OMIM
613896
Clinvar variants
Variants in BPGM
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BPGM was added gene: BPGM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: BPGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BPGM were set to Erythrocytosis due to bisphosphoglycerate mutase deficiency