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| Red cell disorders v2.0 | JAK2 | Gene migrated from ENSG00000096968 to ENSG00000096968 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.65 | JAK2 | Zornitza Stark Phenotypes for gene: JAK2 were changed from Erythrocytosis, somatic, 133100 to Erythrocytosis, somatic, 133100; Familial polycythemia MONDO:0001115, JAK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.64 | JAK2 | Zornitza Stark Publications for gene: JAK2 were set to 27389715 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.63 | JAK2 | Zornitza Stark Mode of inheritance for gene: JAK2 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.62 | JAK2 | Zornitza Stark Classified gene: JAK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.62 | JAK2 | Zornitza Stark Gene: jak2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.61 | JAK2 | Zornitza Stark changed review comment from: PMID 35764421: Reports 3 individuals from a single family with heterozygous germline JAK2 p.E846D missense variants presenting with adult‑onset erythrocytosis, elevated hemoglobin/hematocrit and no thrombosis.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.61 | JAK2 | Zornitza Stark edited their review of gene: JAK2: Added comment: PMID 35764421: Reports 3 individuals from a single family with heterozygous germline JAK2 p.E846D missense variants presenting with adult‑onset erythrocytosis, elevated hemoglobin/hematocrit and no thrombosis.; Changed rating: GREEN; Changed publications: 27389715, 38629639, 35764421 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.61 | JAK2 | Zornitza Stark edited their review of gene: JAK2: Changed phenotypes: Erythrocytosis, somatic, 133100, Familial polycythemia MONDO:0001115, JAK2-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v1.61 | JAK2 | Zornitza Stark edited their review of gene: JAK2: Added comment: 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: 27389715, 38629639 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.157 | JAK2 | Zornitza Stark Marked gene: JAK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.157 | JAK2 | Zornitza Stark Gene: jak2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.157 | JAK2 | Zornitza Stark Classified gene: JAK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.157 | JAK2 | Zornitza Stark Gene: jak2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.156 | JAK2 |
Zornitza Stark gene: JAK2 was added gene: JAK2 was added to Red cell disorders. Sources: Expert Review somatic tags were added to gene: JAK2. Mode of inheritance for gene: JAK2 was set to Other Publications for gene: JAK2 were set to 27389715 Phenotypes for gene: JAK2 were set to Erythrocytosis, somatic, 133100 Mode of pathogenicity for gene: JAK2 was set to Other Review for gene: JAK2 was set to AMBER Added comment: There is limited evidence to support an association of JAK2 variants with hereditary/congenital erythrocytosis. Typically, variants are somatic/acquired; and to date, only one report has described a patient with germline compound het variants (p.E846D and p.R1063H) in JAK2, who exhibited polyclonal erythrocytosis and megakaryocytic atypia but normal platelet number (PMID:27389715). GoF somatic variants in this gene are also associated with polycythaemia vera (PV), particularly p.V617F, but also with reports of some familial clustering due to inheritance of the JAK2 46/1 predisposition haplotype. Amber rating due to the somatic nature of variants. Sources: Expert Review |
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