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| Hereditary Erythrocytosis v1.46 | BPGM |
Achchuthan Shanmugasundram 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. |
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| Hereditary Erythrocytosis v1.46 | BPGM | Achchuthan Shanmugasundram reviewed gene: BPGM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.45 | BPGM |
Achchuthan Shanmugasundram 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) |
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| Hereditary Erythrocytosis v1.37 | BPGM | Arina Puzriakova Publications for gene: BPGM were set to 27651169; 25015942; 5799137; 1421379; 15054810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.36 | BPGM |
Arina Puzriakova 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. |
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| Hereditary Erythrocytosis v1.36 | BPGM |
Arina Puzriakova Added comment: 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. |
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| Hereditary Erythrocytosis v1.36 | BPGM | Arina Puzriakova Mode of inheritance for gene: BPGM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.35 | BPGM | Dmitrijs Rots reviewed gene: BPGM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29790589; Phenotypes: Erythrocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.31 | BPGM | Arina Puzriakova Phenotypes for gene: BPGM were changed from Erythrocytosis, familial, 8 222800 to Erythrocytosis, familial, 8, OMIM:222800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.10 | BPGM | Sarah Leigh Classified gene: BPGM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.10 | BPGM | Sarah Leigh Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.10 | BPGM | Sarah Leigh Gene: bpgm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.9 | BPGM | Sarah Leigh Added comment: Comment on phenotypes: Erythrocytosis due to bisphosphoglycerate mutase deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.9 | BPGM | Sarah Leigh Phenotypes for gene: BPGM were changed from Erythrocytosis due to bisphosphoglycerate mutase deficiency to Erythrocytosis, familial, 8 222800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis | BPGM | Olivia Niblock marked BPGM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis | BPGM | Olivia Niblock classified BPGM as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis | BPGM | Olivia Niblock edited their review of BPGM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis | BPGM | Olivia Niblock added BPGM to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis | BPGM | Olivia Niblock reviewed BPGM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||