Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: AK2

Comment 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

• 19043417

Green List (high evidence)

YES- this is covered on our targeted exome

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

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- SCID

Created: 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: ENST00000354858

Created: 17 Apr 2018, 12:12 p.m.

Green List (high evidence)

Green List (high evidence)

agree with green gene

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

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.