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STRs in panel
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COVID-19 research

Gene: ADA2

Green List (high evidence)

ADA2 (adenosine deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 8 panels

4 reviews

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

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fever with early onset stroke; combined immunodeficiency; Evans' syndrome

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): CECR1 .PanelApp HGNC gene symbol check: ADA2 . IUIS Disease: ADA2 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Lymphocytes. IUIS Associated features: Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related Conditions
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 13 Jun 2018, 1:44 p.m.
Comment on publications: added new publication PMID:29564582 (2018)Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.
(CECR1 previous approved HGNC gene symbol for ADA2)
Created: 11 May 2018, 10:38 a.m.
Comment on list classification: changed from Amber to Green. Polyarteritis nodosa includes immunodeficiency phenotype and there are more than enough cases to support the association between ADA2 and Polyarteritis nodosa. In addition to this, there is a single publication PMID: 26922074 (2016) for a family with two affecteds where Deficiency of ADA2 (DADA2) was reported to cause vasculopathy and early-onset stroke, the case suggests that it should also be considered when evaluating patients with antibody deficiencies and immune dysregulation syndromes. Since they found that DADA2 can present clinically as common variable immunodeficiency or atypical systemic lupus erythematosus.
Created: 30 Apr 2018, 4:12 p.m.
Comment on publications: added publications to support the PID phenotype
Created: 30 Apr 2018, 3:53 p.m.
From OMIM: In 9 patients from 8 unrelated families with childhood-onset polyarteritis nodosa Zhou et al. (2014) PMID: 24552284 identified homozygous or compound heterozygous mutations in the ADA2 (previously known as CECR1) gene. All mutations except 1 were missense mutations. Also additional cases described in PMID: 24552285 and PMID:26922074
Created: 30 Apr 2018, 3:52 p.m.
Comment on phenotypes: added phenotype, synonyms and MIMid from OMIM
Created: 30 Apr 2018, 3:43 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CECR1, PanelApp HGNC gene symbol check: ADA2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Autoinflammatory disorders / Other autoinflammatory diseases with known genetic defect / Other autoinflammatory diseases with known genetic defect
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ADA2, GRID_Gene_Symbol: CECR1 ADA2, GRID_Transcript_ENS_Community submitted: ENST00000399839, GRID_Transcript_RefSeq: NM_001282227.1, GRID_Transcript_ENS_used_on_Production: ENST00000399839
Created: 17 Apr 2018, 12:12 p.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Evans' syndrome
  • Polyarteritis nodosa, childhood-onset, 615688
  • combined immunodeficiency
  • Polyarteritis nodosa
  • Deficiency of ADA2 (DADA2)
  • Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever
  • Autoinflammatory Disorders
  • Fever with early onset stroke
  • ADA2 deficiency
OMIM
607575
Clinvar variants
Variants in ADA2
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: ADA2 was added gene: ADA2 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,IUIS Classification February 2018 Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 24552284; 26922074; 24552285; 29564582 Phenotypes for gene: ADA2 were set to Other autoinflammatory diseases with known genetic defect; Evans' syndrome; Polyarteritis nodosa, childhood-onset, 615688; combined immunodeficiency; Polyarteritis nodosa; Deficiency of ADA2 (DADA2); Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever; Autoinflammatory Disorders; Fever with early onset stroke; ADA2 deficiency