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Primary immunodeficiency

Gene: ADAR

Green List (high evidence)

ADAR (adenosine deaminase, RNA specific)
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 22 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)

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): ADAR1 .PanelApp HGNC gene symbol check: ADAR . IUIS Disease: ADAR1 deficiency, AGS6 . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Classical AGS, BSN, SP. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Type 1 Interferonopathies
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: added omim MIMid
Created: 11 May 2018, 10:19 a.m.
Comment on list classification: changed fro Amber to Green
Created: 11 May 2018, 9:52 a.m.
Comment on publications: added publications to support the PID phenotype of auto-inflammation which is relevant to this panel
Created: 11 May 2018, 8:52 a.m.
Type I interferonopathies refers to a recently described set of monogenic diseases in which an upregulation of type I interferons is central to their pathogenesis and covers a spectrum of conditions including Aicardi-Goutières Syndrome (AGS), which is a rare genetic disorder most consistently affecting the brain and the skin. The seven AGS-associated genes encode proteins that are involved in either nucleic acid metabolism, one of which, are variants in the gene ADAR that cause Loss-of-Function (recessive or dominant-negative). Studies of the AGS-related protein like ADAR1, suggest that an inappropriate accumulation of self-derived nucleic acids can induce type I interferon signaling (PMID: 24183309; 27643693;25604658;25769924). The interferon signature appears to be a very good marker of disease and the diagnostic criteria for AGS includes the persistent elevation of mRNA levels of interferon-stimulated gene transcript observed in the peripheral blood of almost all cases of AGS with mutations in TREX1, RNASEH2A, RNASEH2C, SAMHD1, ADAR1 and IFIH1, and in 75% of patients with mutations in RNASEH2B (PMID:24183309)
Created: 10 May 2018, 11:23 a.m.
Comment on mode of inheritance: Added MOI from publications, both AR and AD
Created: 10 May 2018, 8:44 a.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: ADAR1, PanelApp HGNC gene symbol check: ADAR, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Type 1 interferonopathies / Type 1 interferonopathies
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ADAR, GRID_Gene_Symbol: ADAR, GRID_Transcript_ENS_Community submitted: ENST00000368474, GRID_Transcript_RefSeq: NM_001111.4, GRID_Transcript_ENS_used_on_Production: ENST00000368474
Created: 17 Apr 2018, 12:12 p.m.

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ADAR.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to ADAR.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ADAR.

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 ADAR were set to Fever Syndromes and Related Diseases, Aicardi-Goutieres syndrome 6, 615010, AGS6, Type 1 interferonopathies, Classical AGS, BSN, SP, Autoinflammatory Disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

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

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

11 May 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ADAR were set to Fever Syndromes and Related Diseases, Aicardi-Goutieres syndrome 6, 615010; AGS6; Type 1 interferonopathies

11 May 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).

11 May 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADAR were set to 24183309; 27643693; 25604658; 25769924; 24262145; 23001123

11 May 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADAR were set to 24183309; 27643693; 25604658; 25769924

11 May 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADAR were set to 19808788; 23062469; 24183309

11 May 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADAR were set to 18724932; 19808788; 23062469; 24183309

10 May 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ADAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to ADAR. 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 ADAR. Panel: Primary immunodeficiency disorders Phenotypes for gene ADAR were set to Fever Syndromes and Related Diseases, Aicardi-Goutieres syndrome 6 (AGS6), Type 1 interferonopathies

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ADAR were set to Fever Syndromes and Related Diseases, Aicardi-Goutieres syndrome 6 (AGS6)

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

ADAR was created by Louise Daugherty