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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