Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: AK2

Green List (high evidence)

AK2 (adenylate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000004455
EnsemblGeneIds (GRCh37): ENSG00000004455
OMIM: 103020, Gene2Phenotype
AK2 is in 7 panels

6 reviews

Tracy Briggs (Manchester Genomic Medicine Centre)

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

Louise Daugherty (Genomics England Curator)

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.

Christopher Duncan (Newcastle University)

Green List (high evidence)

Kimberly Gilmour (Great Ormond Street Hopsital)

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Reticular dysgenesis, AK2 deficiency
  • Granulocytopenia and deafness
  • Reticular dysgenesis, 267500
  • Reticular dysgenesis with sensorineural deafness
  • Reticular Dysgenesis AK2 (SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
OMIM
103020
Clinvar variants
Variants in AK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: AK2 was added gene: AK2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK2 were set to 19043417; 19043416 Phenotypes for gene: AK2 were set to Reticular dysgenesis, AK2 deficiency; Granulocytopenia and deafness; Reticular dysgenesis, 267500; Reticular dysgenesis with sensorineural deafness; Reticular Dysgenesis AK2 (SCID); Immunodeficiencies affecting cellular and humoral immunity