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Newborns main panel

Gene: JAK3

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50091/
Created: 26 Sep 2024, 12:50 p.m. | Last Modified: 26 Sep 2024, 12:50 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 12:50 p.m.
Last Modified: 26 Sep 2024, 12:50 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
JAK3 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • JAK3 related T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency
Tags
special_consideration
OMIM
600173
Clinvar variants
Variants in JAK3
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: JAK3.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: JAK3 were changed from JAK3 associated T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency to JAK3 related T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes JAK3 associated T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency for gene: JAK3

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes JAK3 associated T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency for gene: JAK3

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes JAK3 associated T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency for gene: JAK3

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to JAK3. Added phenotypes JAK3 associated T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency for gene: JAK3 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to JAK3. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes JAK3 associated T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency for gene: JAK3

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: JAK3 was added gene: JAK3 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal