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Primary immunodeficiency

Gene: ADA2

Green List (high evidence)

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

5 reviews

Eleanor Williams (Genomics England Curator)

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, 12:22 p.m. | Last Modified: 14 Oct 2020, 12:22 p.m.
Panel Version: 2.219
The following PubMed IDs were added to entity ADA2: 24552285;24552284;27059682;27444081. These publications have been associated with OMIM phenotype MIM#615688, which is listed for this entity, by the autoinflammation 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

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
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Polyarteritis nodosa
  • Polyarteritis nodosa, childhood-onset, 615688
  • ADA2 deficiency
  • Deficiency of ADA2 (DADA2)
  • Other autoinflammatory diseases with known genetic defect
  • Fever with early onset stroke
  • combined immunodeficiency
  • Evans' syndrome
  • Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever
  • Autoinflammatory Disorders
OMIM
607575
Clinvar variants
Variants in ADA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ada2 has been classified as Green List (High Evidence).

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to ADA2. Publications for gene ADA2 were updated from 24552284; 24552285; 26922074; 29564582 to 24552284; 24552285; 29564582; 27059682; 26922074; 27444081 Rating Changed from Green List (high evidence) to Red List (low evidence)

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ADA2.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to ADA2.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ADA2.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ADA2 were set to Polyarteritis nodosa, Polyarteritis nodosa, childhood-onset, 615688, ADA2 deficiency, Deficiency of ADA2 (DADA2), Other autoinflammatory diseases with known genetic defect, Fever with early onset stroke, combined immunodeficiency, Evans' syndrome, Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever, Autoinflammatory Disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to ADA2. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to ADA2. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ada2 has been classified as Green List (High Evidence).

13 Jun 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ADA2 were set to Polyarteritis nodosa; Polyarteritis nodosa, childhood-onset, 615688; ADA2 deficiency; Deficiency of ADA2 (DADA2); Other autoinflammatory diseases with known genetic defect; Fever with early onset stroke; combined immunodeficiency; Evans' syndrome

11 May 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADA2 were set to 24552284; 24552285; 26922074; 29564582

30 Apr 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ADA2 were set to Polyarteritis nodosa; Polyarteritis nodosa, childhood-onset, 615688; ADA2 deficiency; Deficiency of ADA2 (DADA2); Other autoinflammatory diseases with known genetic defect

30 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ADA2 were set to Polyarteritis nodosa; Polyarteritis nodosa, childhood-onset, 615688; ADA2 deficiency; Other autoinflammatory diseases with known genetic defect

30 Apr 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADA2 were set to 24552284; 24552285; 26922074

30 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ADA2 were set to Polyarteritis nodosa; Polyarteritis nodosa, childhood-onset, 615688; ADA2 deficiency; Other autoinflammatory diseases with known genetic defect

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to ADA2. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to ADA2. Panel: Primary immunodeficiency disorders Phenotypes for gene ADA2 were set to Polyarteritis nodosa, Other autoinflammatory diseases with known genetic defect

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ADA2 were set to Polyarteritis nodosa

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

ADA2 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

ADA2 was created by Louise Daugherty