Red cell disorders

Gene: BPGM

Amber List (moderate evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mixture of mono-allelic and bi-allelic variants reported, MOI uncertain.
Sources: Expert list
Created: 15 Sep 2021, 4:43 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Erythrocytosis, familial, 8, MIM# 222800

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Erythrocytosis, familial, 8, MIM# 222800
OMIM
613896
Clinvar variants
Variants in BPGM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bpgm has been classified as Amber List (Moderate Evidence).

15 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bpgm has been classified as Amber List (Moderate Evidence).

15 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BPGM was added gene: BPGM was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: BPGM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BPGM were set to 1421379; 27651169; 25015942 Phenotypes for gene: BPGM were set to Erythrocytosis, familial, 8, MIM# 222800 Review for gene: BPGM was set to AMBER