Familial hypoparathyroidism
Gene: AIREAs 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.
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 inheritanceCreated: 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
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.
Mode of inheritance for AIRE was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
AIRE was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Phenotypes for gene AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
AIRE was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list