Cytopenias and congenital anaemias
Gene: JAK2EnsemblGeneIds (GRCh38): ENSG00000096968
EnsemblGeneIds (GRCh37): ENSG00000096968
OMIM: 147796, Gene2Phenotype
JAK2 is in 7 panels
2 reviews
Helen Brittain (Genomics England Curator)
Somatic. Implicated in somatic mutations in myelofibrosis and AML. No clear evidence of germline mutation and haematological diseaseCreated: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
Myeloproliferative neoplasms (MPN); Acute myeloid leukaemia (AML)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Myeloproliferative neoplasms (MPN); Acute myeloid leukaemia (AML)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Other - please specify in evaluation comments
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Myeloproliferative neoplasms (MPN)
- Acute myeloid leukaemia (AML)
- Tags
- OMIM
- 147796
- Clinvar variants
- Variants in JAK2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)JAK2 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene JAK2 was set to Other - please specify in evaluation comments
Added New Source
Louise Daugherty (Genomics England Curator)JAK2 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)JAK2 was created by LouiseD