Thrombocythaemia
Gene: JAK2
JAK2 (Janus kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000096968
EnsemblGeneIds (GRCh37): ENSG00000096968
OMIM: 147796, Gene2Phenotype
JAK2 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000096968
EnsemblGeneIds (GRCh37): ENSG00000096968
OMIM: 147796, Gene2Phenotype
JAK2 is in 7 panels
1 review
Arina Puzriakova (Genomics England Curator)
Most cases are typically associated with somatic JAK2 variants; however, some hereditary cases (at least 4 families) with different germline heterozygous variants have also been reported.Created: 24 Sep 2020, 5:02 p.m. | Last Modified: 24 Sep 2020, 5:02 p.m.
Panel Version: 0.8
This gene has been added to the panel with a Green rating on the recommendation of the GMS specialist disease group experts.Created: 20 Aug 2020, 2:55 p.m. | Last Modified: 20 Aug 2020, 2:55 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Thrombocythemia 3, 614521
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Thrombocythemia 3, 614521
- Tags
- OMIM
- 147796
- Clinvar variants
- Variants in JAK2
- Penetrance
- None
- Panels with this gene
History Filter Activity
24 Sep 2020, Gel status: 3
Added Tag
Arina Puzriakova (Genomics England Curator)Tag somatic tag was added to gene: JAK2.
20 Aug 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: JAK2 was added gene: JAK2 was added to Thrombocythaemia. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: JAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: JAK2 were set to Thrombocythemia 3, 614521