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Rare genetic inflammatory skin disorders

Gene: AIRE

Green List (high evidence)
AIRE (autoimmune regulator)
EnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 14 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA;APS1
Created: 24 Mar 2021, 1:47 p.m. | Last Modified: 24 Mar 2021, 1:47 p.m.
Panel Version: 1.9
Created: 24 Mar 2021, 1:47 p.m.
Last Modified: 24 Mar 2021, 1:47 p.m.
Panel version: 1.9

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1

Publications

Created: 12 Dec 2019, 3:08 p.m.
Last Modified: 12 Dec 2019, 3:08 p.m.
Panel version: 0.21

Catherine Snow (Genomics England)

I don't know

This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:AIRE; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
Created: 9 Sep 2019, 3:38 p.m.
Last Modified: 9 Sep 2019, 3:38 p.m.
Panel version: 0.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300
  • autoimmune polyendocrine syndrome type 1, MONDO:0009411
OMIM
607358
Clinvar variants
Variants in AIRE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Nov 2025, Gel status: 3

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: AIRE were changed from Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300; autoimmune polyendocrine syndrome type 1, MONDO:0009411

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: AIRE were changed from AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300

12 Dec 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to AIRE. Added phenotypes AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 for gene: AIRE Publications for gene AIRE were changed from to 9921903; 9398839 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: AIRE was added gene: AIRE was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal