Cytopenias and congenital anaemias
Gene: JAK3EnsemblGeneIds (GRCh38): ENSG00000105639
EnsemblGeneIds (GRCh37): ENSG00000105639
OMIM: 600173, Gene2Phenotype
JAK3 is in 6 panels
2 reviews
Helen Brittain (Genomics England Curator)
Reports to date implicate this gene as a mutational event in the evolution of JMML. No clear evidence of germline mutations and disease risk.Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
Unknown
Phenotypes
JMML (Juvenile myelomonocytic leukaemia)
Publications
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Myelodysplastic syndrome (MDS), Paediatric
- OMIM
- 600173
- Clinvar variants
- Variants in JAK3
- Penetrance
- Complete
- Publications
- 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.
Added New Source
Sarah Leigh (Genomics England Curator)JAK3 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
Added New Source
Louise Daugherty (Genomics England Curator)JAK3 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)JAK3 was created by LouiseD