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[
{
"created": "2022-04-12T11:16:25.537020Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "1.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MPL were changed from Thrombocythemia 2, 601977 to Thrombocythemia 2, OMIM:601977",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-09-30T10:16:19.988995Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "1.2",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-30T10:05:43.015873Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "1.0",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-30T10:01:45.998079Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.11",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-30T09:55:45.102351Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: SH2B3 was changed from Unknown to Other",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-30T09:55:10.721722Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: CALR was changed from Unknown to Other",
"entity_name": "CALR",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:24:26.050813Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.8",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "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.\r\n•\tPMID 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\r\n•\tPMID: 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.\r\n•\tPMID 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.\r\nTherefore 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.\r\n•\tPMID 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\r\n•\tPMID: 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.\r\n•\tPMID 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.\r\nTherefore 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",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-28T16:19:52.528926Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.8",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "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.\r\n•\tPMID: 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.\r\n•\tPMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms.\r\n•\tPMID 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.\r\nTherefore 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.\r\n•\tPMID 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\r\n•\tPMID: 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.\r\n•\tPMID 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.\r\nTherefore 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",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:45:29.313181Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.8",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "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.\r\n•\tPMID: 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.\r\n•\tPMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms.\r\n•\tPMID 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.\r\nTherefore 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.\r\n•\tPMID: 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.\r\n•\tPMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms.\r\n•\tPMID 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.\r\nTherefore rating SH2B3 as Red as although germline variants have been discovered there is no conclusive association of a thrombocythaemia phenotype with these variants.",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:44:37.883121Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.8",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "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.\r\n•\tPMID: 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.\r\n•\tPMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms.\r\n•\tPMID 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.\r\nTherefore 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.\r\n•\tPMID: 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.\r\n•\tPMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms.\r\n•\tPMID 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.\r\nTherefore rating SH2B3 as Red as although germline variants have been discovered there is no conclusive association of a thrombocythaemia phenotype and these variants.",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:43:29.709355Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.8",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:43:26.002882Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.8",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "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.\r\n•\tPMID: 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.\r\n•\tPMID 20404132 identifies a patient with thrombocythaemia with a somatic variant (E208Q) in SH2B3 again when investigating patients with myeloproliferative neoplasms.\r\n•\tPMID 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.\r\nTherefore 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",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-28T15:42:41.513105Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.8",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: SH2B3: Rating: RED; Mode of pathogenicity: None; Publications: 20404132, 27716218; Phenotypes: ; Mode of inheritance: Other",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-09-24T17:02:35.851965Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: JAK2.",
"entity_name": "JAK2",
"entity_type": "gene"
},
{
"created": "2020-09-24T17:02:19.274603Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "edited their review of gene: JAK2: Added comment: Most cases are typically associated with somatic JAK2 variants; however, some hereditary cases (at least 4 families) with different germline heterozygous variants have also been reported.; Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 22397670, 23535062, 24381227, 24398328; Changed phenotypes: Thrombocythemia 3, 614521",
"entity_name": "JAK2",
"entity_type": "gene"
},
{
"created": "2020-09-24T15:37:46.706075Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "changed review comment from: Associated with Myelofibrosis, somatic\tMIM#254450 and Thrombocythemia, somatic MIM#187950 in OMIM. \r\n\r\nPMID: 24325356 - Klampfl et al 2013 - performed WES to identify somatically acquired mutations in six patients who had primary myelofibrosis without mutations in JAK2 or MPL. Two patients had somatic deletions in exon 9 of CALR, and the remaining 4 had a recurrent 5-bp insertion. They then screened 382 patients with polycythemia vera, 311 with essential thrombocythemia, and 203 with primary myelofibrosis for alterations in CALR. 78 patients with essential thrombocythemia (25%) and 72 with primary myelofibrosis (35%) had mutations in CALR. All patients with mutated CALR had nonmutated JAK2 and MPL. \r\n\r\nPMID: 24325359 - Nangalia et al 2013 - performed exome sequencing of samples obtained from 151 patients with myeloproliferative neoplasms. The mutation status of the gene encoding calreticulin (CALR) was assessed in an additional 1345 hematologic cancers, 1517 other cancers, and 550 controls. Somatic CALR mutations were found in 70 to 84% of samples of myeloproliferative neoplasms with nonmutated JAK2, in 8% of myelodysplasia samples, in occasional samples of other myeloid cancers, and in none of the other cancers.\r\n\r\nPMID: 31778606 - Jan and Choi 2020 - review of molecular basis of myeloproliferative neoplasms - only somatic mutations mentioned, no germline.; to: Associated with Myelofibrosis, somatic\tMIM#254450 and Thrombocythemia, somatic MIM#187950 in OMIM. \r\n\r\n2 papers report somatic mutations. No germline mutations reported to date.\r\n\r\nPMID: 24325356 - Klampfl et al 2013 - performed WES to identify somatically acquired mutations in six patients who had primary myelofibrosis without mutations in JAK2 or MPL. Two patients had somatic deletions in exon 9 of CALR, and the remaining 4 had a recurrent 5-bp insertion. They then screened 382 patients with polycythemia vera, 311 with essential thrombocythemia, and 203 with primary myelofibrosis for alterations in CALR. 78 patients with essential thrombocythemia (25%) and 72 with primary myelofibrosis (35%) had mutations in CALR. All patients with mutated CALR had nonmutated JAK2 and MPL. \r\n\r\nPMID: 24325359 - Nangalia et al 2013 - performed exome sequencing of samples obtained from 151 patients with myeloproliferative neoplasms. The mutation status of the gene encoding calreticulin (CALR) was assessed in an additional 1345 hematologic cancers, 1517 other cancers, and 550 controls. Somatic CALR mutations were found in 70 to 84% of samples of myeloproliferative neoplasms with nonmutated JAK2, in 8% of myelodysplasia samples, in occasional samples of other myeloid cancers, and in none of the other cancers.\r\n\r\nPMID: 31778606 - Jan and Choi 2020 - review of molecular basis of myeloproliferative neoplasms - only somatic mutations mentioned, no germline.",
"entity_name": "CALR",
"entity_type": "gene"
},
{
"created": "2020-09-24T15:26:16.961860Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.8",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Phenotypes for gene: CALR were changed from Thrombocythemia, somatic, 187950 to Thrombocythemia, somatic, 187950; Myelofibrosis, somatic, 254450",
"entity_name": "CALR",
"entity_type": "gene"
},
{
"created": "2020-09-24T15:26:03.777977Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.7",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Publications for gene: CALR were set to ",
"entity_name": "CALR",
"entity_type": "gene"
},
{
"created": "2020-09-24T15:25:45.204588Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.6",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: CALR: Rating: AMBER; Mode of pathogenicity: None; Publications: 24325356, 24325359, 31778606; Phenotypes: Myelofibrosis, somatic, 254450, Thrombocythemia, somatic, 187950; Mode of inheritance: Unknown",
"entity_name": "CALR",
"entity_type": "gene"
},
{
"created": "2020-08-20T16:34:12.271812Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.6",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-20T16:30:30.800551Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.5",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-20T15:12:11.290266Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.4",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-20T15:10:27.186552Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.3",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-20T15:08:54.678163Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.2",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "List of related panels changed from to R406\nPanel types changed to GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-20T14:56:51.276607Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.1",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: SH2B3.",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:56:24.778477Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.1",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: CALR.",
"entity_name": "CALR",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:55:56.003117Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.1",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CALR: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "CALR",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:55:55.985070Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.1",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: SH2B3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:55:55.967074Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.1",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: JAK2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "JAK2",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:55:55.948101Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.1",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: THPO: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:55:55.930566Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.1",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: MPL: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:49:24.973642Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.0",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: CALR was added\ngene: CALR was added to Thrombocythaemia. Sources: NHS GMS,Expert Review Amber\nMode of inheritance for gene: CALR was set to Unknown\nPhenotypes for gene: CALR were set to Thrombocythemia, somatic, 187950",
"entity_name": "CALR",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:49:24.905185Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.0",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: SH2B3 was added\ngene: SH2B3 was added to Thrombocythaemia. Sources: NHS GMS,Expert Review Amber\nMode of inheritance for gene: SH2B3 was set to Unknown\nPhenotypes for gene: SH2B3 were set to Thrombocythemia, somatic, 187950",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:49:24.847465Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.0",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: JAK2 was added\ngene: JAK2 was added to Thrombocythaemia. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: JAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: JAK2 were set to Thrombocythemia 3, 614521",
"entity_name": "JAK2",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:49:24.780422Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.0",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: THPO was added\ngene: THPO was added to Thrombocythaemia. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: THPO were set to Thrombocythemia 1, 187950",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:49:24.710802Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.0",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: MPL was added\ngene: MPL was added to Thrombocythaemia. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: MPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: MPL were set to Thrombocythemia 2, 601977",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-08-20T14:49:24.648056Z",
"panel_name": "Thrombocythaemia",
"panel_id": 945,
"panel_version": "0.0",
"user_name": "Arina Puzriakova",
"item_type": "panel",
"text": "Added panel Thrombocythaemia",
"entity_name": null,
"entity_type": null
}
]