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Hereditary Erythrocytosis v2.6 PKLR Arina Puzriakova Publications for gene: PKLR were set to 22274579
Hereditary Erythrocytosis v2.5 PKLR Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'both mono- and biallelic' to 'monoallelic' only. Limited evidence but historic reports linked heterozygous variants in the PKLR gene to elevation of red cell ATP levels, accompanied by elevated red cell pyruvate kinase activity and mild erythrocytosis. Patients were asymptomatic and no recent cases have been published therefore Red rating is appropriate (PMIDs: 9090535; 4160306; 14300761; 7426754).

Biallelic variants cause pyruvate kinase deficiency which results in nonspherocytic hemolytic anemia rather than erythrocytosis.
Hereditary Erythrocytosis v2.5 PKLR Arina Puzriakova Mode of inheritance for gene: PKLR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Erythrocytosis v2.4 PKLR Arina Puzriakova Phenotypes for gene: PKLR were changed from Familial erythrocytosis to Adenosine triphosphate, elevated, of erythrocytes, OMIM:102900
Hereditary Erythrocytosis v2.1 Catherine Snow Panel version 2.0 has been signed off on 2023-03-22
Hereditary Erythrocytosis v2.0 Catherine Snow promoted panel to version 2.0
Hereditary Erythrocytosis v1.46 PIEZO1 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.

GMS reviewers note that it is a very polymorphic gene that will impose a substantial analysis burden. Publication identifies 4 "possibly" causative mutations and stresses the importance of electrophysiological assessment of variants, which is not always easy to arrange.
Hereditary Erythrocytosis v1.46 PIEZO1 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: PIEZO1.
Hereditary Erythrocytosis v1.46 SLC30A10 Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: SLC30A10.
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.
Hereditary Erythrocytosis v1.46 PIEZO1 Achchuthan Shanmugasundram reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary Erythrocytosis v1.46 SLC30A10 Achchuthan Shanmugasundram reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary Erythrocytosis v1.46 BPGM Achchuthan Shanmugasundram reviewed gene: BPGM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary Erythrocytosis v1.45 SLC30A10 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC30A10.
Source NHS GMS was added to SLC30A10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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)
Hereditary Erythrocytosis v1.44 PIEZO1 Arina Puzriakova Classified gene: PIEZO1 as Amber List (moderate evidence)
Hereditary Erythrocytosis v1.44 PIEZO1 Arina Puzriakova Added comment: Comment on list classification: New association with this phenotype identified by external reviewer, Dmitrijs Rots. Rating Amber but there is sufficient evidence to promote this gene to Green at the next GMS panel update.
Hereditary Erythrocytosis v1.44 PIEZO1 Arina Puzriakova Gene: piezo1 has been classified as Amber List (Moderate Evidence).
Hereditary Erythrocytosis v1.43 PIEZO1 Arina Puzriakova Tag Q1_22_rating tag was added to gene: PIEZO1.
Hereditary Erythrocytosis v1.43 PIEZO1 Arina Puzriakova reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33181827, 31298594, 30655378; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Erythrocytosis v1.43 PIEZO1 Arina Puzriakova Publications for gene: PIEZO1 were set to PMID: 33181827
Hereditary Erythrocytosis v1.42 SH2B3 Arina Puzriakova changed review comment from: Eligibility criteria for this panel states that secondary causes of erythrocytosis such as myeloproliferative neoplasm must be excluded prior to testing.; to: Eligibility criteria for this panel (R405) states that secondary causes of erythrocytosis such as myeloproliferative neoplasm must be excluded prior to testing.
Hereditary Erythrocytosis v1.42 SH2B3 Arina Puzriakova commented on gene: SH2B3
Hereditary Erythrocytosis v1.42 SLC30A10 Arina Puzriakova Publications for gene: SLC30A10 were set to PMID: 22341971; 22341972
Hereditary Erythrocytosis v1.41 SLC30A10 Arina Puzriakova Classified gene: SLC30A10 as Amber List (moderate evidence)
Hereditary Erythrocytosis v1.41 SLC30A10 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by external reviewer Dmitrijs Rots. There is enough evidence to promote this gene to Green at the next GMS panel update. All affected individuals reported to date (>3) had polycythemia at the time of diagnosis, which can precede the onset of neurologic manifestations and therefore it is worth including SLC30A10 on this panel.
Hereditary Erythrocytosis v1.41 SLC30A10 Arina Puzriakova Gene: slc30a10 has been classified as Amber List (Moderate Evidence).
Hereditary Erythrocytosis v1.40 SLC30A10 Arina Puzriakova Tag treatable tag was added to gene: SLC30A10.
Tag Q4_21_rating tag was added to gene: SLC30A10.
Hereditary Erythrocytosis v1.40 SLC30A10 Arina Puzriakova Phenotypes for gene: SLC30A10 were changed from Erythrocytosis; Polycytemia; Hypermanganesemia; Parkinsonism; Dystonia; Liver disease to Hypermanganesemia with dystonia 1, OMIM:613280; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Hereditary Erythrocytosis v1.39 PIEZO1 Arina Puzriakova Phenotypes for gene: PIEZO1 were changed from Erythrocytosis to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380; Erythrocytosis
Hereditary Erythrocytosis v1.38 SH2B3 Arina Puzriakova Publications for gene: SH2B3 were set to 23812944; 20843259
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.
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.
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 SH2B3 Dmitrijs Rots reviewed gene: SH2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34440325, 34021251; Phenotypes: Myeloproliferative neoplasm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Erythrocytosis v1.35 SLC30A10 Dmitrijs Rots gene: SLC30A10 was added
gene: SLC30A10 was added to Hereditary Erythrocytosis. Sources: Literature
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to PMID: 22341971; 22341972
Phenotypes for gene: SLC30A10 were set to Erythrocytosis; Polycytemia; Hypermanganesemia; Parkinsonism; Dystonia; Liver disease
Review for gene: SLC30A10 was set to GREEN
Added comment: In 6 individuals from two families and 14 individuals from 8 families reported in in 22341971 and 22341972, respectively - all have erythrocytosis/polycytemia.
Sources: Literature
Hereditary Erythrocytosis v1.35 PIEZO1 Dmitrijs Rots gene: PIEZO1 was added
gene: PIEZO1 was added to Hereditary Erythrocytosis. Sources: Literature
Mode of inheritance for gene: PIEZO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIEZO1 were set to PMID: 33181827
Phenotypes for gene: PIEZO1 were set to Erythrocytosis
Penetrance for gene: PIEZO1 were set to unknown
Mode of pathogenicity for gene: PIEZO1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PIEZO1 was set to GREEN
Added comment: Pathogenic variants (gain-of-function missense) in the PIEZO1 has been previously identified as a cause of hereditary xerocytosis. Recently, it has been Identified that similar (likely) pathogenic GoF missense variants likely causes erythrocytosis in 5 individuals. Functional analysis confirms pathogenicity of the variants. Patients also displayed features of hereditary xerocytosis.
Sources: Literature
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 v1.35 EGLN3 Arina Puzriakova Phenotypes for gene: EGLN3 were changed from erythrocytosis to Familial erythrocytosis
Hereditary Erythrocytosis v1.34 SH2B3 Arina Puzriakova Phenotypes for gene: SH2B3 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
Hereditary Erythrocytosis v1.33 SH2B3 Arina Puzriakova Publications for gene: SH2B3 were set to
Hereditary Erythrocytosis v1.32 JAK2 Arina Puzriakova Phenotypes for gene: JAK2 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
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 v1.30 VHL Arina Puzriakova Phenotypes for gene: VHL were changed from Familial Erythrocytosis 263400; Polycythaemia; erythrocytosis; pulmonary arterial hypertension; thrombosis; vertebral haemangioma; varicose veins to Erythrocytosis, familial, 2, OMIM:263400
Hereditary Erythrocytosis v1.29 HBB Arina Puzriakova Phenotypes for gene: HBB were changed from Familial erythrocytosis to Erythrocytosis 6, OMIM:617980
Hereditary Erythrocytosis v1.28 HBA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Heinz body anemia, OMIM:140700; Hemoglobin H disease, deletional and nondeletional, OMIM:613978; Thalassemia, alpha-, OMIM:604131
Hereditary Erythrocytosis v1.28 HBA2 Arina Puzriakova Phenotypes for gene: HBA2 were changed from Erythrocytosis to Erythrocytosis 7, OMIM:617981
Hereditary Erythrocytosis v1.27 HBA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Heinz body anemias, alpha-, OMIM:140700; Hemoglobin H disease, nondeletional, OMIM:613978; Methemoglobinemia, alpha type, OMIM:617973; Thalassemias, alpha-, OMIM:604131
Hereditary Erythrocytosis v1.27 HBA1 Arina Puzriakova Phenotypes for gene: HBA1 were changed from Familial erythrocytosis to Erythrocytosis 7, OMIM:617981
Hereditary Erythrocytosis v1.26 EPOR Arina Puzriakova Phenotypes for gene: EPOR were changed from Polcythaemia; erythrocytosis; Familial Erythrocytosis to [Erythrocytosis, familial, 1], OMIM:133100
Hereditary Erythrocytosis v1.25 EPO Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with ?Diamond-Blackfan anemia-like, OMIM:617911; {Microvascular complications of diabetes 2}, OMIM:612623
Hereditary Erythrocytosis v1.25 EPO Arina Puzriakova Phenotypes for gene: EPO were changed from Erythrocytosis, familial, 5 617907 to Erythrocytosis, familial, 5, OMIM:617907
Hereditary Erythrocytosis v1.24 EPAS1 Arina Puzriakova Phenotypes for gene: EPAS1 were changed from Familial Erythrocytosis, 611783; Erythrocystosis; Pulmonary arterial hypertension; paraganglioma to Erythrocytosis, familial, 4, OMIM:611783
Hereditary Erythrocytosis v1.23 EGLN1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with [Hemoglobin, high altitude adaptation], OMIM:609070
Hereditary Erythrocytosis v1.23 EGLN1 Arina Puzriakova Phenotypes for gene: EGLN1 were changed from Familial Erythrocytosis 609820; Polycythaemia; paraganglioma; phaeochromocytoma to Erythrocytosis, familial, 3, OMIM:609820
Hereditary Erythrocytosis v1.20 Arina Puzriakova Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Hereditary Erythrocytosis v1.19 Arina Puzriakova Panel types changed to Rare Disease 100K; GMS Rare Disease
Panel version has been signed off
Hereditary Erythrocytosis v1.17 SH2B3 Arina Puzriakova Tag for-review was removed from gene: SH2B3.
Hereditary Erythrocytosis v1.17 SH2B3 Arina Puzriakova Mode of inheritance for gene: SH2B3 was changed from Unknown to Other
Hereditary Erythrocytosis v1.16 JAK2 Arina Puzriakova Tag for-review was removed from gene: JAK2.
Hereditary Erythrocytosis v1.16 SH2B3 Catherine Snow reviewed gene: SH2B3: Rating: RED; Mode of pathogenicity: None; Publications: 23812944, 20843259; Phenotypes: Hereditary Erythrocytosis; Mode of inheritance: Other
Hereditary Erythrocytosis v1.16 JAK2 Arina Puzriakova Mode of pathogenicity for gene: JAK2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary Erythrocytosis v1.15 JAK2 Arina Puzriakova Mode of inheritance for gene: JAK2 was changed from Unknown to Other
Hereditary Erythrocytosis v1.14 JAK2 Arina Puzriakova reviewed gene: JAK2: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 27389715; Phenotypes: Erythrocytosis, somatic, 133100; Mode of inheritance: Other
Hereditary Erythrocytosis v1.14 Sarah Leigh Panel types changed to Rare Disease 100K; GMS Rare Disease
Hereditary Erythrocytosis v1.13 SH2B3 Sarah Leigh Classified gene: SH2B3 as Amber List (moderate evidence)
Hereditary Erythrocytosis v1.13 SH2B3 Sarah Leigh Added comment: Comment on list classification: An amber rating has been given to SH2B3, as only somatic variants in this gene have been reported to be associated with Erythrocytosis, somatic 133100.
Hereditary Erythrocytosis v1.13 SH2B3 Sarah Leigh Gene: sh2b3 has been classified as Amber List (Moderate Evidence).
Hereditary Erythrocytosis v1.12 SH2B3 Sarah Leigh Tag for-review tag was added to gene: SH2B3.
Hereditary Erythrocytosis v1.12 JAK2 Sarah Leigh Tag for-review tag was added to gene: JAK2.
Hereditary Erythrocytosis v1.12 JAK2 Sarah Leigh Classified gene: JAK2 as Amber List (moderate evidence)
Hereditary Erythrocytosis v1.12 JAK2 Sarah Leigh Added comment: Comment on list classification: An amber rating has been given to JAK2, as only somatic variants in this gene have been reported to be associated with Erythrocytosis, somatic 133100.
Hereditary Erythrocytosis v1.12 JAK2 Sarah Leigh Gene: jak2 has been classified as Amber List (Moderate Evidence).
Hereditary Erythrocytosis v1.11 Sarah Leigh List of related panels changed from to R405
Panel types changed to Rare Disease 100K; GMS signed-off
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 v1.8 JAK2 Sarah Leigh changed review comment from: GMS Expert list Green
Sources: Expert list, NHS GMS; to: GMS Expert review Green
Sources: Expert review, NHS GMS
Hereditary Erythrocytosis v1.8 SH2B3 Sarah Leigh changed review comment from: GMS Expert list Green
Sources: NHS GMS, Expert list; to: GMS Expert review Green
Sources: NHS GMS, Expert review
Hereditary Erythrocytosis v1.8 SH2B3 Sarah Leigh Classified gene: SH2B3 as Green List (high evidence)
Hereditary Erythrocytosis v1.8 SH2B3 Sarah Leigh Gene: sh2b3 has been classified as Green List (High Evidence).
Hereditary Erythrocytosis v1.7 SH2B3 Sarah Leigh gene: SH2B3 was added
gene: SH2B3 was added to Hereditary Erythrocytosis. Sources: NHS GMS,Expert list
somatic tags were added to gene: SH2B3.
Mode of inheritance for gene: SH2B3 was set to Unknown
Phenotypes for gene: SH2B3 were set to Erythrocytosis, somatic 133100
Review for gene: SH2B3 was set to GREEN
Added comment: GMS Expert list Green
Sources: NHS GMS, Expert list
Hereditary Erythrocytosis v1.6 JAK2 Sarah Leigh Classified gene: JAK2 as Green List (high evidence)
Hereditary Erythrocytosis v1.6 JAK2 Sarah Leigh Gene: jak2 has been classified as Green List (High Evidence).
Hereditary Erythrocytosis v1.5 JAK2 Sarah Leigh gene: JAK2 was added
gene: JAK2 was added to Hereditary Erythrocytosis. Sources: Expert list,NHS GMS
somatic tags were added to gene: JAK2.
Mode of inheritance for gene: JAK2 was set to Unknown
Phenotypes for gene: JAK2 were set to Erythrocytosis, somatic 133100
Review for gene: JAK2 was set to GREEN
Added comment: GMS Expert list Green
Sources: Expert list, NHS GMS
Hereditary Erythrocytosis v1.4 EPO Sarah Leigh Added comment: Comment on mode of inheritance: Biallelic variants have been associated with ?Diamond-Blackfan anemia-like 617911
Hereditary Erythrocytosis v1.4 EPO Sarah Leigh Mode of inheritance for gene: EPO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Erythrocytosis v1.3 EPO Sarah Leigh Phenotypes for gene: EPO were changed from Hereditary Erythrocytosis to Erythrocytosis, familial, 5 617907
Hereditary Erythrocytosis v1.2 EPO Sarah Leigh Classified gene: EPO as Green List (high evidence)
Hereditary Erythrocytosis v1.2 EPO Sarah Leigh Added comment: Comment on list classification: GMS, Expert list Green
Hereditary Erythrocytosis v1.2 EPO Sarah Leigh Gene: epo has been classified as Green List (High Evidence).
Hereditary Erythrocytosis HBB Ellen McDonagh commented on HBB
Hereditary Erythrocytosis Olivia Niblock promoted panel to version 1
Hereditary Erythrocytosis HBA1 Olivia Niblock classified HBA1 as green
Hereditary Erythrocytosis HBB Olivia Niblock classified HBB as green
Hereditary Erythrocytosis HBA2 Olivia Niblock classified HBA2 as green
Hereditary Erythrocytosis HBA2 Olivia Niblock commented on HBA2
Hereditary Erythrocytosis HBB Olivia Niblock classified HBB as amber
Hereditary Erythrocytosis HBA1 Olivia Niblock classified HBA1 as amber
Hereditary Erythrocytosis HBA2 Olivia Niblock marked HBA2 as ready
Hereditary Erythrocytosis HBA2 Olivia Niblock classified HBA2 as amber
Hereditary Erythrocytosis HBA2 Olivia Niblock classified HBA2 as green
Hereditary Erythrocytosis HBA1 Olivia Niblock marked HBA1 as ready
Hereditary Erythrocytosis HBA1 Olivia Niblock classified HBA1 as green
Hereditary Erythrocytosis HBA1 Olivia Niblock commented on HBA1
Hereditary Erythrocytosis HBB Olivia Niblock marked HBB as ready
Hereditary Erythrocytosis HBB Olivia Niblock classified HBB as green
Hereditary Erythrocytosis BPGM Olivia Niblock marked BPGM as ready
Hereditary Erythrocytosis BPGM Olivia Niblock classified BPGM as green
Hereditary Erythrocytosis EPO Olivia Niblock classified EPO as red
Hereditary Erythrocytosis EPO Olivia Niblock classified EPO as red
Hereditary Erythrocytosis EGLN3 Olivia Niblock classified EGLN3 as red
Hereditary Erythrocytosis EGLN2 Olivia Niblock classified EGLN2 as red
Hereditary Erythrocytosis HBB Olivia Niblock edited their review of HBB
Hereditary Erythrocytosis HBB Olivia Niblock classified HBB as amber
Hereditary Erythrocytosis HBB Olivia Niblock edited their review of HBB
Hereditary Erythrocytosis HIF1A Olivia Niblock edited their review of HIF1A
Hereditary Erythrocytosis EGLN2 Olivia Niblock edited their review of EGLN2
Hereditary Erythrocytosis EGLN3 Olivia Niblock added EGLN3 to panel
Hereditary Erythrocytosis EGLN3 Olivia Niblock reviewed EGLN3
Hereditary Erythrocytosis EGLN2 Olivia Niblock added EGLN2 to panel
Hereditary Erythrocytosis EGLN2 Olivia Niblock reviewed EGLN2
Hereditary Erythrocytosis HIF1A Olivia Niblock added HIF1A to panel
Hereditary Erythrocytosis HIF1A Olivia Niblock reviewed HIF1A
Hereditary Erythrocytosis PKLR Olivia Niblock added PKLR to panel
Hereditary Erythrocytosis PKLR Olivia Niblock reviewed PKLR
Hereditary Erythrocytosis HBA1 Olivia Niblock added HBA1 to panel
Hereditary Erythrocytosis HBA1 Olivia Niblock reviewed HBA1
Hereditary Erythrocytosis HBB Olivia Niblock added HBB to panel
Hereditary Erythrocytosis HBB Olivia Niblock reviewed HBB
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
Hereditary Erythrocytosis EPO Olivia Niblock added EPO to panel
Hereditary Erythrocytosis EPO Olivia Niblock reviewed EPO
Hereditary Erythrocytosis EPOR Olivia Niblock marked EPOR as ready
Hereditary Erythrocytosis EPOR Olivia Niblock classified EPOR as green
Hereditary Erythrocytosis EPOR Olivia Niblock commented on EPOR
Hereditary Erythrocytosis VHL Olivia Niblock marked VHL as ready
Hereditary Erythrocytosis VHL Olivia Niblock classified VHL as green
Hereditary Erythrocytosis VHL Olivia Niblock commented on VHL
Hereditary Erythrocytosis EPAS1 Olivia Niblock marked EPAS1 as ready
Hereditary Erythrocytosis EPAS1 Olivia Niblock classified EPAS1 as green
Hereditary Erythrocytosis EPAS1 Olivia Niblock commented on EPAS1
Hereditary Erythrocytosis EGLN1 Olivia Niblock marked EGLN1 as ready
Hereditary Erythrocytosis EGLN1 Olivia Niblock classified EGLN1 as green
Hereditary Erythrocytosis EGLN1 Olivia Niblock commented on EGLN1
Hereditary Erythrocytosis EPOR Daniel Gale reviewed EPOR
Hereditary Erythrocytosis EGLN1 Daniel Gale edited their review of EGLN1
Hereditary Erythrocytosis VHL Daniel Gale reviewed VHL
Hereditary Erythrocytosis EPAS1 Daniel Gale reviewed EPAS1
Hereditary Erythrocytosis EGLN1 Daniel Gale reviewed EGLN1
Hereditary Erythrocytosis Ellen McDonagh approved panel
Hereditary Erythrocytosis EPAS1 Ellen McDonagh added EPAS1 to panel
Hereditary Erythrocytosis EPAS1 Ellen McDonagh reviewed EPAS1
Hereditary Erythrocytosis EGLN1 Ellen McDonagh added EGLN1 to panel
Hereditary Erythrocytosis EGLN1 Ellen McDonagh reviewed EGLN1
Hereditary Erythrocytosis VHL Ellen McDonagh added VHL to panel
Hereditary Erythrocytosis VHL Ellen McDonagh reviewed VHL
Hereditary Erythrocytosis EPOR Ellen McDonagh added EPOR to panel
Hereditary Erythrocytosis EPOR Ellen McDonagh reviewed EPOR