Ectodermal dysplasia without a known gene mutation

Gene: AIRE

Red List (low evidence)

AIRE (autoimmune regulator)
EnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 13 panels

1 review

John McGrath (King's College London)

Red List (low evidence)

The syndrome is not an ED
Created: 19 Nov 2015, 3:06 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
OMIM
607358
Clinvar variants
Variants in AIRE
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

10 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

10 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300

25 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AIRE was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: UKGTN