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Hereditary Erythrocytosis v2.15 SH2B3 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: SH2B3.
Tag Q2_25_expert_review was removed from gene: SH2B3.
Tag Q2_25_ NHS_review was removed from gene: SH2B3.
Hereditary Erythrocytosis v2.15 SH2B3 Arina Puzriakova commented on gene: SH2B3: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers commented as follows: All GLH providers for this specialty agree that this should not be promoted to green rating - no definitive evidence for germline association with erythrocytosis
Hereditary Erythrocytosis v2.13 SH2B3 Arina Puzriakova Tag Q2_25_expert_review tag was added to gene: SH2B3.
Hereditary Erythrocytosis v2.13 SH2B3 Arina Puzriakova edited their review of gene: SH2B3: Added comment: Tagging for GMS expert review to determine whether this gene should be included and the MOI that should be set on this panel. Erythrocytosis is thought to be caused by somatic variants (for somatic variants MOI is set to Other) and testing criteria for this panel states that secondary causes such as myeloproliferative neoplasm should be excluded. However, Terri McVeigh states that germline variants should be included, although these are typically linked to myeloproliferative neoplasms.

Cases of erythrocytosis due to germline variants are rare, and most studies reporting SH2B3 variants have not determined germline or somatic status (PMID: 20843259; 23812944; 27651169; 34349782). In the literature, there is only one report of idiopathic erythrocytosis, without signs of myeloproliferative neoplasms, associated with a confirmed germline heterozygous SH2B3 variant. The mother was also a carrier but had no signs of erythrocytosis (PMID: 38024597).; Changed publications to: 20843259, 23812944, 27651169, 34349782, 38024597
Hereditary Erythrocytosis v2.13 SH2B3 Achchuthan Shanmugasundram Tag Q2_25_ MOI was removed from gene: SH2B3.
Hereditary Erythrocytosis v2.13 SH2B3 Sarah Leigh Tag Q2_25_ MOI tag was added to gene: SH2B3.
Hereditary Erythrocytosis v2.13 SH2B3 Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: SH2B3.
Tag Q2_25_ NHS_review tag was added to gene: SH2B3.
Hereditary Erythrocytosis v2.13 SH2B3 Sarah Leigh commented on gene: SH2B3: Based on the review by Terri McVeigh (Royal Marsden NHS Foundation Trust), this gene is recommended to be made green.
Hereditary Erythrocytosis v2.13 SH2B3 Sarah Leigh Phenotypes for gene: SH2B3 were changed from Erythrocytosis, somatic, OMIM:133100 to Erythrocytosis, somatic, OMIM:133100; Myelofibrosis, somatic, OMIM:254450; Thrombocythemia, somatic, OMIM:187950
Hereditary Erythrocytosis v2.12 SH2B3 Sarah Leigh Publications for gene: SH2B3 were set to 23812944; 20843259; 34440325; 34021251
Hereditary Erythrocytosis v2.11 SH2B3 Terri McVeigh reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1182/blood-2024-210339, 10.1016/j.ejcped.2023.100042, PMID: 38024597, PMID: 37981895, https://doi.org/10.1182/blood-2013-08-519843, https://doi.org/10.1016/j.leukres.2024.107566https://doi.org/10.1182/blood-2013-05-500850; Phenotypes: thrombocytosis, myeloproliferative disease, ALL; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 v1.38 SH2B3 Arina Puzriakova Publications for gene: SH2B3 were set to 23812944; 20843259
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 v1.34 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 v1.17 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 SH2B3 Catherine Snow reviewed gene: SH2B3: Rating: RED; Mode of pathogenicity: None; Publications: 23812944, 20843259; Phenotypes: Hereditary Erythrocytosis; Mode of inheritance: Other
Hereditary Erythrocytosis v1.13 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 v1.8 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