Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: AK2Comment 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, 12:24 p.m. | Last Modified: 14 Oct 2020, 12:24 p.m.
Panel Version: 2.221
The following PubMed IDs were added to gene AK2 (OMIM gene MIM#103020): 19043417. 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
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
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): AK2 .PanelApp HGNC gene symbol check: AK2 . IUIS Disease: Reticular dysgenesis . IUIS Inheritance: AR .T cells: N/A, .B cells: Nl to low, .IUIS Other affected cells: N/A. IUIS Associated features: Granulocytopenia and deafness. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: T-B- SCIDCreated: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: AK2, PanelApp HGNC gene symbol check: AK2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Severe combined immunodeficiency (SCID) / Reticular Dysgenesis - AK2 (SCID)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: AK2, GRID_Gene_Symbol: AK2, GRID_Transcript_ENS_Community submitted: ENST00000354858, GRID_Transcript_RefSeq: NM_013411.3, GRID_Transcript_ENS_used_on_Production: ENST00000354858Created: 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
Comment on list classification: Was added by one reviewer, and rated green by an additional two reviewers, therefore added as a green gene to the panel. It is a confirmed DD gene for reticular dysgenesis.Created: 20 May 2016, 2:25 p.m.
Gene: ak2 has been classified as Green List (High Evidence).
Source Other was added to AK2. Publications for gene AK2 were updated from 19043416; 19043417 to 19043416; 19043417 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to AK2.
Source North West GLH was added to AK2.
Source London North GLH was added to AK2.
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 AK2 were set to Reticular dysgenesis with sensorineural deafness, Reticular dysgenesis, 267500, Reticular dysgenesis, AK2 deficiency, Reticular Dysgenesis AK2 (SCID), Granulocytopenia and deafness, Immunodeficiencies affecting cellular and humoral immunity
IUIS Classification February 2018 was added to AK2. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to AK2. Panel: Primary immunodeficiency disorders
Gene: ak2 has been classified as Green List (High Evidence).
Phenotypes for gene: AK2 were set to Reticular dysgenesis with sensorineural deafness; Reticular dysgenesis, 267500; Reticular dysgenesis, AK2 deficiency; Reticular Dysgenesis AK2 (SCID)
Phenotypes for AK2 were set to Reticular dysgenesis with sensorineural deafness; Reticular dysgenesis, AK2 deficiency; Reticular Dysgenesis AK2 (SCID)
ESID Registry 20171117 was added to AK2. Panel: Primary immunodeficiency disorders Phenotypes for gene AK2 were set to Reticular dysgenesis with sensorineural deafness, Reticular dysgenesis, AK2 deficiency, Reticular Dysgenesis - AK2 (SCID)
Phenotypes for gene AK2 were set to Reticular dysgenesis with sensorineural deafness, Reticular dysgenesis, AK2 deficiency
GRID V2.0 was added to AK2. Panel: Primary immunodeficiency disorders Phenotypes for gene AK2 were set to Reticular dysgenesis with sensorineural deafness, Reticular dysgenesis, AK2 deficiency
Phenotypes for AK2 were set to Reticular dysgenesis with sensorineural deafness
AK2 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, SCID v1.6
AK2 was created by Louise Daugherty