Red cell disorders
Gene: JAK2
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 ReviewCreated: 16 Sep 2021, 3:48 a.m.
Mode of inheritance
Other
Phenotypes
Erythrocytosis, somatic, 133100
Publications
Mode of pathogenicity
Other
Gene: jak2 has been classified as Amber List (Moderate Evidence).
Gene: jak2 has been classified as Amber List (Moderate Evidence).
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