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| Thrombocythaemia v0.10 | SH2B3 | Arina Puzriakova Mode of inheritance for gene: SH2B3 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombocythaemia v0.8 | SH2B3 |
Catherine Snow changed review comment from: Limited evidence of SH2B3 (alson known as LNK) variants associated with Thrombocythaemia. Most reporting on Thrombocythaemia are in adjacent to work on Myeloproliferative neoplasms (MPNs) - these are a heterogenous group of malignant haematological disorder, of which one of the seven diagnostic entities is Essential Thrombocythaemia. • PMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 when investigating patients with myeloproliferative neoplasms the patient did not have the JAK2 (V617F) variant. Influence of CALR had not been discovered at this time • PMID: 27237057 Aimed to discover new variants associated with familial forms of MPN's, 26 members from five families sequenced with at least two members affected by MPN. A proband who had primary myelofibrosis phenotype had the E208Q SH2B3 variant and a CALR variant (p.L367fs*46) were identified. The probands daughter had a thrombocythaemia phenotype with the same SH2B3 variant and the JAK2 (V617F) variant. Three additional family members had the SH2B3 variant but no reported associated phenotypes. Although the E208Q SH2B3 variant is germline there is not sufficient evidence that this variant causes a thrombocythaemia phenotype. • PMID 27716218 also identified variant E208Q in SH2B3 and concluded it as a germline variant. Two unrelated families each had two family members with MPNs and the E208Q in SH2B3 variant. Only 2/4 with MPNs had thrombocythaemia all had the JAK2 (V617F) variant, the authors concluded that it appears unlikely that SH2B3 alterations may act as driver mutations in MPNs. Therefore rating SH2B3 as Amber as although germline variants have been discovered the Thromobcythaemia phenotype has only been observed when accompanied with additional known somatic variants in JAK2/CALR; to: Limited evidence of SH2B3 (alson known as LNK) variants associated with Thrombocythaemia. Most reporting on Thrombocythaemia are in adjacent to work on Myeloproliferative neoplasms (MPNs) - these are a heterogenous group of malignant haematological disorder, of which one of the seven diagnostic entities is Essential Thrombocythaemia. • PMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 when investigating patients with myeloproliferative neoplasms the patient did not have the known JAK2 (V617F) somatic variant. The role of CALR had not been discovered at this time • PMID: 27237057 Aimed to discover new variants associated with familial forms of MPN's, 26 members from five families sequenced with at least two members affected by MPN. A proband who had primary myelofibrosis phenotype had the E208Q SH2B3 variant and a CALR variant (p.L367fs*46) were identified. The probands daughter had a thrombocythaemia phenotype with the same SH2B3 variant and the JAK2 (V617F) variant. Three additional family members had the SH2B3 variant but no reported associated phenotypes. Although the E208Q SH2B3 variant is germline there is not sufficient evidence that this variant causes a thrombocythaemia phenotype. • PMID 27716218 also identified variant E208Q in SH2B3 and concluded it as a germline variant. Two unrelated families each had two family members with MPNs and the E208Q in SH2B3 variant. Only 2/4 with MPNs had thrombocythaemia all had the JAK2 (V617F) variant, the authors concluded that it appears unlikely that SH2B3 alterations may act as driver mutations in MPNs. Therefore rating SH2B3 as Amber as although germline variants have been discovered the Thromobcythaemia phenotype has only been observed when accompanied with additional known somatic variants in JAK2/CALR |
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| Thrombocythaemia v0.8 | SH2B3 |
Catherine Snow changed review comment from: Limited evidence of SH2B3 (alson known as LNK) variants associated with Thrombocythaemia. Most reporting on Thrombocythaemia are in adjacent to work on Myeloproliferative neoplasms (MPNs) - these are a heterogenous group of malignant haematological disorder, one of the seven diagnostic entities is Essential Thrombocythaemia. • PMID: 27237057 Aimed to discover new variants associated with familial forms of MPN's, sequenced 26 members from five families with at least two members affected by MPN. The proband had primary myelofibrosis phenotype a SH2B3 variant and a CALR variant were identified. The probands daughter had a thrombocythaemia phenotype with the same SH2B3 variant and a JAK2V617F variant. Three additional family members had the SH2B3 variant but no reported associated phenotypes. Although the SH2B3 variant is germline there is not sufficient evidence that this variant causes a thrombocythaemia phenotype. • PMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms. • PMID 27716218 identified a germline variant in SH2B3 in two families affected members had MPNs but not all had thrombocythaemia and concluded that it appears unlikely that SH2B3 alterations may act as driver mutations in MPNs. Therefore rating SH2B3 as Red as although germline variants have been discovered there is no conclusive association of a thrombocythaemia phenotype with these variants.; to: Limited evidence of SH2B3 (alson known as LNK) variants associated with Thrombocythaemia. Most reporting on Thrombocythaemia are in adjacent to work on Myeloproliferative neoplasms (MPNs) - these are a heterogenous group of malignant haematological disorder, of which one of the seven diagnostic entities is Essential Thrombocythaemia. • PMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 when investigating patients with myeloproliferative neoplasms the patient did not have the JAK2 (V617F) variant. Influence of CALR had not been discovered at this time • PMID: 27237057 Aimed to discover new variants associated with familial forms of MPN's, 26 members from five families sequenced with at least two members affected by MPN. A proband who had primary myelofibrosis phenotype had the E208Q SH2B3 variant and a CALR variant (p.L367fs*46) were identified. The probands daughter had a thrombocythaemia phenotype with the same SH2B3 variant and the JAK2 (V617F) variant. Three additional family members had the SH2B3 variant but no reported associated phenotypes. Although the E208Q SH2B3 variant is germline there is not sufficient evidence that this variant causes a thrombocythaemia phenotype. • PMID 27716218 also identified variant E208Q in SH2B3 and concluded it as a germline variant. Two unrelated families each had two family members with MPNs and the E208Q in SH2B3 variant. Only 2/4 with MPNs had thrombocythaemia all had the JAK2 (V617F) variant, the authors concluded that it appears unlikely that SH2B3 alterations may act as driver mutations in MPNs. Therefore rating SH2B3 as Amber as although germline variants have been discovered the Thromobcythaemia phenotype has only been observed when accompanied with additional known somatic variants in JAK2/CALR |
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| Thrombocythaemia v0.8 | SH2B3 |
Catherine Snow changed review comment from: Limited evidence of SH2B3 (alson known as LNK) variants associated with Thrombocythaemia. Most reporting on Thrombocythaemia are in adjacent to work on Myeloproliferative neoplasms (MPNs) - these are a heterogenous group of malignant haematological disorder, one of the seven diagnostic entities is Essential Thrombocythaemia. • PMID: 27237057 Aimed to discover new variants associated with familial forms of MPN's, sequenced 26 members from five families with at least two members affected by MPN. The proband had primary myelofibrosis phenotype a SH2B3 variant and a CALR variant were identified. The probands daughter had a thrombocythaemia phenotype with the same SH2B3 variant and a JAK2V617F variant. Three additional family members had the SH2B3 variant but no reported associated phenotypes. Although the SH2B3 variant is germline there is not sufficient evidence that this variant causes a thrombocythaemia phenotype. • PMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms. • PMID 27716218 identified a germline variant in SH2B3 in two families affected members had MPNs but not all had thrombocythaemia and concluded that it appears unlikely that SH2B3 alterations may act as driver mutations in MPNs. Therefore rating SH2B3 as Red as although germline variants have been discovered there is no conclusive association of a thrombocythaemia phenotype and these variants.; to: Limited evidence of SH2B3 (alson known as LNK) variants associated with Thrombocythaemia. Most reporting on Thrombocythaemia are in adjacent to work on Myeloproliferative neoplasms (MPNs) - these are a heterogenous group of malignant haematological disorder, one of the seven diagnostic entities is Essential Thrombocythaemia. • PMID: 27237057 Aimed to discover new variants associated with familial forms of MPN's, sequenced 26 members from five families with at least two members affected by MPN. The proband had primary myelofibrosis phenotype a SH2B3 variant and a CALR variant were identified. The probands daughter had a thrombocythaemia phenotype with the same SH2B3 variant and a JAK2V617F variant. Three additional family members had the SH2B3 variant but no reported associated phenotypes. Although the SH2B3 variant is germline there is not sufficient evidence that this variant causes a thrombocythaemia phenotype. • PMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms. • PMID 27716218 identified a germline variant in SH2B3 in two families affected members had MPNs but not all had thrombocythaemia and concluded that it appears unlikely that SH2B3 alterations may act as driver mutations in MPNs. Therefore rating SH2B3 as Red as although germline variants have been discovered there is no conclusive association of a thrombocythaemia phenotype with these variants. |
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| Thrombocythaemia v0.8 | SH2B3 |
Catherine Snow changed review comment from: Limited evidence of SH2B3 (alson known as LNK) variants associated with Thrombocythaemia. Most reporting on Thrombocythaemia are in adjacent to work on Myeloproliferative neoplasms (MPNs) - these are a heterogenous group of malignant haematological disorder, one of the seven diagnostic entities of it is essential Thrombocythaemia. • PMID: 27237057 Aimed to discover new variants associated with familial forms of MPN's, sequenced 26 members from five families with at least two members affected by MPN. The proband had primary myelofibrosis phenotype a SH2B3 variant and a CALR variant were identified. The probands daughter had a thrombocythaemia phenotype with the same SH2B3 variant and a JAK2V617F variant. Three additional family members had the SH2B3 variant but no reported associated phenotypes. Although the SH2B3 variant is germline there is not sufficient evidence that this variant causes a thrombocythaemia phenotype. • PMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms. • PMID 27716218 identified a germline variant in SH2B3 in two families affected members had MPNs but not all had thrombocythaemia and concluded that it appears unlikely that SH2B3 alterations may act as driver mutations in MPNs. Therefore rating SH2B3 as Red as although germline variants have been discovered there is no conclusive association of a thrombocythaemia phenotype and these variants.; to: Limited evidence of SH2B3 (alson known as LNK) variants associated with Thrombocythaemia. Most reporting on Thrombocythaemia are in adjacent to work on Myeloproliferative neoplasms (MPNs) - these are a heterogenous group of malignant haematological disorder, one of the seven diagnostic entities is Essential Thrombocythaemia. • PMID: 27237057 Aimed to discover new variants associated with familial forms of MPN's, sequenced 26 members from five families with at least two members affected by MPN. The proband had primary myelofibrosis phenotype a SH2B3 variant and a CALR variant were identified. The probands daughter had a thrombocythaemia phenotype with the same SH2B3 variant and a JAK2V617F variant. Three additional family members had the SH2B3 variant but no reported associated phenotypes. Although the SH2B3 variant is germline there is not sufficient evidence that this variant causes a thrombocythaemia phenotype. • PMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms. • PMID 27716218 identified a germline variant in SH2B3 in two families affected members had MPNs but not all had thrombocythaemia and concluded that it appears unlikely that SH2B3 alterations may act as driver mutations in MPNs. Therefore rating SH2B3 as Red as although germline variants have been discovered there is no conclusive association of a thrombocythaemia phenotype and these variants. |
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| Thrombocythaemia v0.8 | SH2B3 | Catherine Snow Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombocythaemia v0.8 | SH2B3 |
Catherine Snow edited their review of gene: SH2B3: Added comment: Limited evidence of SH2B3 (alson known as LNK) variants associated with Thrombocythaemia. Most reporting on Thrombocythaemia are in adjacent to work on Myeloproliferative neoplasms (MPNs) - these are a heterogenous group of malignant haematological disorder, one of the seven diagnostic entities of it is essential Thrombocythaemia. • PMID: 27237057 Aimed to discover new variants associated with familial forms of MPN's, sequenced 26 members from five families with at least two members affected by MPN. The proband had primary myelofibrosis phenotype a SH2B3 variant and a CALR variant were identified. The probands daughter had a thrombocythaemia phenotype with the same SH2B3 variant and a JAK2V617F variant. Three additional family members had the SH2B3 variant but no reported associated phenotypes. Although the SH2B3 variant is germline there is not sufficient evidence that this variant causes a thrombocythaemia phenotype. • PMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms. • PMID 27716218 identified a germline variant in SH2B3 in two families affected members had MPNs but not all had thrombocythaemia and concluded that it appears unlikely that SH2B3 alterations may act as driver mutations in MPNs. Therefore rating SH2B3 as Red as although germline variants have been discovered there is no conclusive association of a thrombocythaemia phenotype and these variants.; Changed publications: 20404132, 27716218, 27237057 |
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| Thrombocythaemia v0.8 | SH2B3 | Catherine Snow reviewed gene: SH2B3: Rating: RED; Mode of pathogenicity: None; Publications: 20404132, 27716218; Phenotypes: ; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombocythaemia v0.1 | SH2B3 | Arina Puzriakova Tag somatic tag was added to gene: SH2B3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombocythaemia v0.1 | SH2B3 | Arina Puzriakova reviewed gene: SH2B3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombocythaemia v0.0 | SH2B3 |
Arina Puzriakova gene: SH2B3 was added gene: SH2B3 was added to Thrombocythaemia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SH2B3 was set to Unknown Phenotypes for gene: SH2B3 were set to Thrombocythemia, somatic, 187950 |
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