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Familial hypoparathyroidism

Gene: AIRE

Green List (high evidence)

AIRE (autoimmune regulator)
EnsemblGeneIds (GRCh38): ENSG00000160224
EnsemblGeneIds (GRCh37): ENSG00000160224
OMIM: 607358, Gene2Phenotype
AIRE is in 11 panels

3 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 2:36 p.m.

Treena Cranston (Oxford)

Green List (high evidence)

generally reported as syndromic, but from own NHS cohort we have a couple of cases where hypoparathyroidism was the first presenting feature.
a couple of rare reports of autosomal dominant inheritance
Created: 20 Jul 2016, 7:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ACEPED; APS1

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype (240300) in OMIM and G2P which includes hypoparathyroidism. Found in 2/4 sources. Reviewer recommends Green. Current diagnostic test.
Created: 6 Jun 2016, 7:57 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
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

8 Jun 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

8 Jun 2016, Gel status: 4

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

6 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Jun 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

AIRE was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

6 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

3 Aug 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

AIRE was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list