Red cell disorders

Gene: JAK2

Amber List (moderate evidence)

JAK2 (Janus kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000096968
EnsemblGeneIds (GRCh37): ENSG00000096968
OMIM: 147796, Gene2Phenotype
JAK2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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
Created: 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
somatic
OMIM
147796
Clinvar variants
Variants in JAK2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

16 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jak2 has been classified as Amber List (Moderate Evidence).

16 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jak2 has been classified as Amber List (Moderate Evidence).

16 Sep 2021, Gel status: 1

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