Hereditary Erythrocytosis
Gene: BPGM
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
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
4 individuals with variants classified as (likely) pathogenic. Similar to the comment from Sarah Leigh, both monoallelic and biallelic variants are reportedCreated: 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
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 deficiencyCreated: 19 Aug 2020, 9:07 a.m. | Last Modified: 19 Aug 2020, 9:07 a.m.
Panel Version: 1.9
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.
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)
Publications for gene: BPGM were set to 27651169; 25015942; 5799137; 1421379; 15054810
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.
Mode of inheritance for gene: BPGM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BPGM were changed from Erythrocytosis, familial, 8 222800 to Erythrocytosis, familial, 8, OMIM:222800
Gene: bpgm has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: BPGM were changed from Erythrocytosis due to bisphosphoglycerate mutase deficiency to Erythrocytosis, familial, 8 222800
09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Publications for BPGM were set to 27651169; 25015942; 5799137; 1421379; 15054810
Publications for BPGM were set to 27651169;25015942;5799137;152321;1421379;15054810
This gene has been classified as Green List (High Evidence).
BPGM was created by oniblock
BPGM was added to Hereditary Erythrocytosispanel. Sources: Literature