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Prepair 1000+

Gene: JAK3

Green List (high evidence)
JAK3 (Janus kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000105639
EnsemblGeneIds (GRCh37): ENSG00000105639
OMIM: 600173, Gene2Phenotype
JAK3 is in 7 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.
>30 individuals with bi-allelic (missense, nonsense, insertion, deletion, splice site) variants reported in JAK3.
Clinical and laboratory hallmarks include Lymphopaenia, extremely low NK cells, thrush, intractable diarrhoea, failure to thrive and severe recurrent airway infections. Severe congenital condition - age of onset generally between 3 and 14 months.
Animal models present - mouse. Cell culture models, and functional studies.
Created: 4 Sep 2024, 11:05 a.m. | Last Modified: 4 Sep 2024, 11:05 a.m.
Panel Version: 1.258

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type MIM#600802

Publications

Created: 4 Sep 2024, 11:05 a.m.
Last Modified: 4 Sep 2024, 11:05 a.m.
Panel version: 1.258

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
OMIM
600173
Clinvar variants
Variants in JAK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: jak3 has been classified as Green List (High Evidence).

6 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: JAK3 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 (3) for gene: JAK3

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: JAK3 was added gene: JAK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)