Mosaic skin disorders - deep sequencing
Gene: JAK2EnsemblGeneIds (GRCh38): ENSG00000096968
EnsemblGeneIds (GRCh37): ENSG00000096968
OMIM: 147796, Gene2Phenotype
JAK2 is in 7 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myelofibrosis
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: JAK2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Removed
- London North GLH
- NHS GMS
- Phenotypes
-
- Myelofibrosis
- Tags
- OMIM
- 147796
- Clinvar variants
- Variants in JAK2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Removed Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag removed was removed from gene: JAK2. Tag curated_removed tag was added to gene: JAK2.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag removed tag was added to gene: JAK2.
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Removed was added to JAK2. Rating Changed from Green List (high evidence) to No List (delete)
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to JAK2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: JAK2 was added gene: JAK2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: JAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: JAK2 were set to Myelofibrosis