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Primary immunodeficiency

Gene: AIRE

Green List (high evidence)

AIRE (autoimmune regulator)
EnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 13 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, 12:23 p.m. | Last Modified: 14 Oct 2020, 12:23 p.m.
Panel Version: 2.220
The following PubMed IDs were added to entity AIRE: 29483906;9735375;28257655;30565240;29949487. These publications have been associated with OMIM phenotype MIM#240300, which is listed for this entity, by the immunedysregulation 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
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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): AIRE .PanelApp HGNC gene symbol check: AIRE . IUIS Disease: APECED (APS-1), autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy . IUIS Inheritance: AR or AD .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Autoimmunity with or without Lymphoproliferation
Created: 2 Jul 2018, 10:35 a.m.
Comment on mode of inheritance: updated MOI from external expert review
Created: 13 Jun 2018, 1:43 p.m.
Comment on list classification: Changed from Amber to Green there are more than 3 unrelated cases to support the PID phenotype.
Created: 1 May 2018, 11:54 a.m.
Changed status from Amber to Green, there are more than 3 unrelated cases to support the phenotype. Recent papers PMID: 28911151 (2017)- largest cohort (112) of patients with clinically characterized APS-1 to date and PMID: 29108822 (2018)
Created: 1 May 2018, 11:50 a.m.
Comment on publications: added publications to support PID phenotype
Created: 1 May 2018, 11:39 a.m.
Comment on mode of inheritance: Changed MOI from AR to both since there is some evidence for monoallelic inheritance PMID: 11600535 (2001) identified an Italian family with autoimmune polyendocrinopathy syndrome and a pattern of inheritance suggestive of a dominant mechanism.
Created: 1 May 2018, 11:23 a.m.
from Orphanet: Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.
Created: 1 May 2018, 11:18 a.m.
Comment on phenotypes: added OMIM MIMid and synonyms
Created: 1 May 2018, 11:12 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: AIRE, PanelApp HGNC gene symbol check: AIRE, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Chronic mucocutaneous candidiasis (CMC) / Chronic mucocutaneous candidiasis (CMC); Diseases of immune dysregulation / Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) / Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: AIRE, GRID_Gene_Symbol: AIRE, GRID_Transcript_ENS_Community submitted: ENST00000291582, GRID_Transcript_RefSeq: NM_000383.3, GRID_Transcript_ENS_used_on_Production: ENST00000291582
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
  • GOSH PID v.8.0
Phenotypes
  • Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300
  • Chronic mucocutaneous candidiasis (CMC)
  • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
  • Autoimmune hypoparathyroidism chronic candidiasis Addison disease syndrome
  • Hypoparathyroidism Addison disease mucocutaneous candidiasis syndrome
  • Multiple endocrine deficiency Addison disease candidiasis syndrome
  • Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia
  • Diseases of Immune Dysregulation
OMIM
607358
Clinvar variants
Variants in AIRE
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: aire 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 AIRE. Publications for gene AIRE were updated from 28911151; 29437776; 29108822; 9398839; 9837820; 9888391; 10677297; 11836330; 19758376; 11600535; 19807739 to 19758376; 29949487; 29108822; 28257655; 19807739; 10677297; 9398839; 11600535; 29483906; 9888391; 28911151; 9735375; 11836330; 29437776; 9837820; 30565240 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 AIRE.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to AIRE.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to AIRE.

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 AIRE were set to Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300, Chronic mucocutaneous candidiasis (CMC), Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), Autoimmune hypoparathyroidism chronic candidiasis Addison disease syndrome, Hypoparathyroidism Addison disease mucocutaneous candidiasis syndrome, Multiple endocrine deficiency Addison disease candidiasis syndrome, Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia, Diseases of Immune Dysregulation

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

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

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

13 Jun 2018, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: AIRE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

1 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).

1 May 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for AIRE were set to 28911151; 29437776; 29108822; 9398839; 9837820; 9888391; 10677297; 11836330; 19758376; 11600535; 19807739

1 May 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for AIRE were set to 9398839; 9837820; 9888391; 10677297; 11836330; 19758376; 11600535; 19807739

1 May 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for AIRE were set to Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300; Chronic mucocutaneous candidiasis (CMC); Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED); Autoimmune hypoparathyroidism chronic candidiasis Addison disease syndrome; Hypoparathyroidism Addison disease mucocutaneous candidiasis syndrome; Multiple endocrine deficiency Addison disease candidiasis syndrome

1 May 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for AIRE were set to 11600535

1 May 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for AIRE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 May 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for AIRE were set to Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300; Chronic mucocutaneous candidiasis (CMC); Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED); Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome; Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome; Multiple endocrine deficiency-Addison disease-candidiasis syndrome

1 May 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for AIRE were set to Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300; Autoimmune polyendocrinopathy syndrome 1 with or without reversible metaphyseal dysplasia; Chronic mucocutaneous candidiasis (CMC); Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to AIRE. 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 AIRE. Panel: Primary immunodeficiency disorders Phenotypes for gene AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autoimmune polyendocrinopathy syndrome 1 with or without reversible metaphyseal dysplasia, Chronic mucocutaneous candidiasis (CMC), Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autoimmune polyendocrinopathy syndrome 1 with or without reversible metaphyseal dysplasia

17 Apr 2018, Gel status: 1

Added New Source, Set mode of inheritance, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to AIRE. Panel: Primary immunodeficiency disorders Model of inheritance for gene AIRE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autoimmune polyendocrinopathy syndrome 1 with or without reversible metaphyseal dysplasia

6 Apr 2018, Gel status: 1

Clear Sources

Louise Daugherty (Genomics England Curator)

AIRE Source: GOSH PID 20171131 was removed from gene: AIRE

6 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to AIRE. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

AIRE was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171131

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

AIRE was created by Louise Daugherty