SCID
Gene: JAK3

JAK3 (Janus kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000105639
EnsemblGeneIds (GRCh37): ENSG00000105639
OMIM: 600173, Gene2Phenotype
JAK3 is in 6 panels

6 reviews

Christopher Duncan (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Agreement from 5 reviewers.
Created: 20 May 2016, 2:06 p.m.

Created: 20 May 2016, 2:06 p.m.

Panel version: 0.19

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
UKGTN

Phenotypes

Severe Combined Immune Deficiency
T-B+ SCID
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

OMIM

600173

Clinvar variants

Variants in JAK3

Penetrance

Complete

Panels with this gene