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| Mendeliome v2.0 | JAK2 | Gene migrated from ENSG00000096968 to ENSG00000096968 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4963 | JAK2 | Zornitza Stark Phenotypes for gene: JAK2 were changed from Thrombocythaemia 3, MIM# 614521 to Thrombocythaemia 3, MIM# 614521; Familial polycythemia MONDO:0001115, JAK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4962 | JAK2 | Zornitza Stark Publications for gene: JAK2 were set to 22397670; 35129130; 41053421; 39657124; 39323414 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4961 | JAK2 | Zornitza Stark edited their review of gene: JAK2: Changed phenotypes: Thrombocythaemia 3, MIM# 614521, Familial polycythemia MONDO:0001115, JAK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4961 | JAK2 |
Zornitza Stark changed review comment from: Association with thrombocytosis: PMID 35764421: Reports 3 individuals from a single family with heterozygous germline JAK2 p.E846D missense variants presenting with adult‑onset erythrocytosis, elevated haemoglobin/haematocrit and no thrombosis. PMID 38629639: Reports 3 individuals from a single family with a heterozygous germline JAK2 R715T missense gain‑of‑function variant presenting with PV‑like erythrocytosis (elevated Hb, low‑normal EPO, no thrombocytosis/leukocytosis). Detailed clinical data for proband, mother and son are provided, together with in‑vitro luciferase, Ba/F3‑EPOR proliferation, p‑STAT5 and EPO‑independent BFU‑E assays demonstrating increased JAK‑STAT signalling. Ropeg‑IFNα treatment induced remission in proband and mother.; to: Association with erythrocytosis: PMID 35764421: Reports 3 individuals from a single family with heterozygous germline JAK2 p.E846D missense variants presenting with adult‑onset erythrocytosis, elevated haemoglobin/haematocrit and no thrombosis. PMID 38629639: Reports 3 individuals from a single family with a heterozygous germline JAK2 R715T missense gain‑of‑function variant presenting with PV‑like erythrocytosis (elevated Hb, low‑normal EPO, no thrombocytosis/leukocytosis). Detailed clinical data for proband, mother and son are provided, together with in‑vitro luciferase, Ba/F3‑EPOR proliferation, p‑STAT5 and EPO‑independent BFU‑E assays demonstrating increased JAK‑STAT signalling. Ropeg‑IFNα treatment induced remission in proband and mother. |
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| Mendeliome v1.4961 | JAK2 |
Zornitza Stark edited their review of gene: JAK2: Added comment: Association with thrombocytosis: PMID 35764421: Reports 3 individuals from a single family with heterozygous germline JAK2 p.E846D missense variants presenting with adult‑onset erythrocytosis, elevated haemoglobin/haematocrit and no thrombosis. PMID 38629639: Reports 3 individuals from a single family with a heterozygous germline JAK2 R715T missense gain‑of‑function variant presenting with PV‑like erythrocytosis (elevated Hb, low‑normal EPO, no thrombocytosis/leukocytosis). Detailed clinical data for proband, mother and son are provided, together with in‑vitro luciferase, Ba/F3‑EPOR proliferation, p‑STAT5 and EPO‑independent BFU‑E assays demonstrating increased JAK‑STAT signalling. Ropeg‑IFNα treatment induced remission in proband and mother.; Changed publications: 22397670, 35129130, 41053421, 39657124, 39323414, 35764421, 38629639 |
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| Mendeliome v1.4961 | JAK2 | Zornitza Stark Publications for gene: JAK2 were set to 22397670; 35129130 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4960 | JAK2 | Zornitza Stark Classified gene: JAK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4960 | JAK2 | Zornitza Stark Gene: jak2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4959 | JAK2 |
Zornitza Stark edited their review of gene: JAK2: Added comment: PMID 41053421: three individuals with germline c.1691 G > A, p.Arg564Gln (R564Q) gain-of-function variant and thrombocytosis. PMID 39657124: Reports 12 individuals from 10 families with heterozygous germline JAK2 p.R564Q/L variants presenting with hereditary thrombocythemia (HT) and variable predisposition to myeloproliferative neoplasms (ET, PV) and lymphoid malignancies (CLL, AML, MGUS). PMID 39323414: Reports 8 individuals from a single family with heterozygous germline JAK2 F556V gain‑of‑function variants presenting with familial thrombocytosis (hereditary thrombocythemia). Overall, sufficient cases with germline variants for GREEN rating.; Changed rating: GREEN; Changed publications: 22397670, 35129130, 41053421, 39657124, 39323414 |
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| Mendeliome v1.1502 | SH2B3 |
Ain Roesley commented on gene: SH2B3: PMID:37206266 2x families - hom missense variant Val402Met: functional performed on patient's fibroblasts demonstrated increased basal pSTAT5, pSTAT3 and increased pJAK2 + pSTAT5 after stimulation with IL-3, GH, GM-CSF and EPO - hom fs Arg148Profs*40 functional performed in zebrafish demonstrated increased number of macrophages and thrombocytes PMID:23908464; 1 fam with 2 affecteds with dev delay + autoimmunity + (1x) ALL, hom for Asp231Gly fs*3 PMID:38152053; JMML cohort - 2x hom missense + 2x het PTCs |
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| Mendeliome v0.11159 | JAK2 | Zornitza Stark Marked gene: JAK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11159 | JAK2 | Zornitza Stark Gene: jak2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11159 | JAK2 | Zornitza Stark Phenotypes for gene: JAK2 were changed from to Thrombocythaemia 3, MIM# 614521 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11158 | JAK2 | Zornitza Stark Publications for gene: JAK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11157 | JAK2 | Zornitza Stark Mode of inheritance for gene: JAK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11156 | JAK2 | Zornitza Stark Classified gene: JAK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11156 | JAK2 | Zornitza Stark Gene: jak2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11155 | JAK2 | Zornitza Stark Tag somatic tag was added to gene: JAK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11155 | JAK2 | Zornitza Stark reviewed gene: JAK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22397670, 35129130; Phenotypes: Thrombocythaemia 3, MIM# 614521; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | JAK2 |
Zornitza Stark gene: JAK2 was added gene: JAK2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: JAK2 was set to Unknown |
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