Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: JAK3Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 14 Oct 2020, 1:15 p.m. | Last Modified: 14 Oct 2020, 1:15 p.m.
Panel Version: 2.268
The following PubMed IDs were added to gene JAK3 (OMIM gene MIM#600173): 7659163;7481768. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): JAK3 .PanelApp HGNC gene symbol check: JAK3 . IUIS Disease: JAK3 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal to high, .IUIS Other affected cells: N/A. IUIS Associated features: Low NK. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: T-B+ Severe Combined Immune Deficiency (SCID)Created: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: JAK3, PanelApp HGNC gene symbol check: JAK3, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Atypical Severe Combined Immunodeficiency (Atypical SCID) / Atypical Severe Combined Immunodeficiency (Atypical SCID); Combined immunodeficiencies / Omenn syndrome / Omenn syndrome; Combined immunodeficiencies / Severe combined immunodeficiency (SCID) / Severe combined immunodeficiency (SCID)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: JAK3, GRID_Gene_Symbol: JAK3, GRID_Transcript_ENS_Community submitted: ENST00000458235, GRID_Transcript_RefSeq: NM_000215.3, GRID_Transcript_ENS_used_on_Production: ENST00000458235Created: 17 Apr 2018, 12:12 p.m.
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Agreement from 5 reviewers.Created: 20 May 2016, 2:06 p.m.
Gene: jak3 has been classified as Green List (High Evidence).
Source Other was added to JAK3. Publications for gene JAK3 were updated from to 7481768; 7659163 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to JAK3.
Source North West GLH was added to JAK3.
Source London North GLH was added to JAK3.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, Severe Combined Immune Deficiency, T-B+ SCID, Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative, JAK3 deficiency, Atypical Severe Combined Immunodeficiency (Atypical SCID), Omenn syndrome, Severe combined immunodeficiency (SCID), Low NK, Immunodeficiencies affecting cellular and humoral immunity
IUIS Classification February 2018 was added to JAK3. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to JAK3. Panel: Primary immunodeficiency disorders
Gene: jak3 has been classified as Green List (High Evidence).
ESID Registry 20171117 was added to JAK3. Panel: Primary immunodeficiency disorders Phenotypes for gene JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, Severe Combined Immune Deficiency, T-B+ SCID, Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative, JAK3 deficiency, Atypical Severe Combined Immunodeficiency (Atypical SCID), Omenn syndrome, Severe combined immunodeficiency (SCID)
Phenotypes for gene JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, Severe Combined Immune Deficiency, T-B+ SCID, Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative, JAK3 deficiency
GRID V2.0 was added to JAK3. Panel: Primary immunodeficiency disorders Phenotypes for gene JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, Severe Combined Immune Deficiency, T-B+ SCID, Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative, JAK3 deficiency
JAK3 Source: GOSH PID 20171165 was removed from gene: JAK3
GOSH PID v.8.0 was added to JAK3. Panel: Primary immunodeficiency disorders
GOSH PID 20171165 was added to JAK3. Panel: Primary immunodeficiency disorders
JAK3 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, SCID v1.6
JAK3 was created by Louise Daugherty