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Hereditary Erythrocytosis
Gene: BPGM

BPGM (bisphosphoglycerate mutase)
EnsemblGeneIds (GRCh38): ENSG00000172331
EnsemblGeneIds (GRCh37): ENSG00000172331
OMIM: 613896, Gene2Phenotype
BPGM is in 1 panel

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 8:29 a.m. | Last Modified: 1 Feb 2023, 8:29 a.m.

Panel Version: 1.46

Created: 1 Feb 2023, 8:29 a.m.
Last Modified: 1 Feb 2023, 8:29 a.m.
Panel version: 1.46

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Three patients described in literature with biallelic variants (PMID: 1421379; 15054810; 33216349) and 2 with heterozygous variants (PMID: 25015942; 27651169) in the BPGM gene. Heterozygous variants in some cases may cause milder erythrocytosis due to partial BPGM deficiency.

Of the four individuals (2 homo, 2 het) identified in the paper reviewed by Dmitrijs Rots (PMID: 29790589), three variants were classified VUS and the other had been previously reported and therefore these cases could not be included.

Although the number of monoallelic cases does not reach the threshold for inclusion, the evidence supports an association with erythrocytosis. To reduce risk of potentially missed diagnoses the MOI may be considered for update from 'biallelic' to 'both mono- and biallelic' but this will be flagged for further GMS review.

In any case, BPGM should be promoted to Green at the next GMS panel update with the respective MOI based on the decision of the expert working group.
Created: 7 Dec 2021, 4:43 p.m. | Last Modified: 7 Dec 2021, 4:43 p.m.

Panel Version: 1.36

Created: 7 Dec 2021, 4:43 p.m.
Last Modified: 7 Dec 2021, 4:43 p.m.
Panel version: 1.36

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

4 individuals with variants classified as (likely) pathogenic. Similar to the comment from Sarah Leigh, both monoallelic and biallelic variants are reported
Created: 30 Nov 2021, 9:18 p.m. | Last Modified: 30 Nov 2021, 9:18 p.m.

Panel Version: 1.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Erythrocytosis

Publications

PMID: 29790589

Created: 30 Nov 2021, 9:18 p.m.
Last Modified: 30 Nov 2021, 9:18 p.m.
Panel version: 1.35

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 4 variants reported in 3 unrelated cases, although two of the cases are biallelic (PMID 25015942, 15054810), one case appears to monoallelic (PMID 25015942).
Created: 19 Aug 2020, 9:19 a.m. | Last Modified: 19 Aug 2020, 9:19 a.m.

Panel Version: 1.10

Comment on phenotypes: Erythrocytosis due to bisphosphoglycerate mutase deficiency
Created: 19 Aug 2020, 9:07 a.m. | Last Modified: 19 Aug 2020, 9:07 a.m.

Panel Version: 1.9

Created: 19 Aug 2020, 9:07 a.m.
Last Modified: 19 Aug 2020, 9:07 a.m.
Panel version: 1.9

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Literature

Phenotypes

Erythrocytosis, familial, 8, OMIM:222800

OMIM

613896

Clinvar variants

Variants in BPGM

Penetrance

Complete

Publications

Panels with this gene

Hereditary Erythrocytosis

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag, Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_21_expert_review was removed from gene: BPGM. Tag Q4_21_MOI was removed from gene: BPGM. Tag Q4_21_rating was removed from gene: BPGM.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to BPGM. Source NHS GMS was added to BPGM. Mode of inheritance for gene BPGM was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Dec 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: BPGM were set to 27651169; 25015942; 5799137; 1421379; 15054810

7 Dec 2021, Gel status: 2

Added Tag, Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_expert_review tag was added to gene: BPGM. Tag Q4_21_MOI tag was added to gene: BPGM. Tag Q4_21_rating tag was added to gene: BPGM.

7 Dec 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: BPGM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

23 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BPGM were changed from Erythrocytosis, familial, 8 222800 to Erythrocytosis, familial, 8, OMIM:222800

19 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Aug 2020, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: BPGM were changed from Erythrocytosis due to bisphosphoglycerate mutase deficiency to Erythrocytosis, familial, 8 222800

9 May 2017, Gel status: 4