Red cell disorders
Gene: JAK2EnsemblGeneIds (GRCh38): ENSG00000096968
EnsemblGeneIds (GRCh37): ENSG00000096968
OMIM: 147796, Gene2Phenotype
JAK2 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Erythrocytosis, somatic, 133100
- Tags
- OMIM
- 147796
- Clinvar variants
- Variants in JAK2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jak2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: jak2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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