Congenital adrenal hypoplasia
Gene: AAASAs 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, 1:47 p.m.
Comment on list classification: Robust association with an overlapping condition.Created: 11 Sep 2016, 8:55 a.m.
Typically causes Triple A syndrome (Allgrove syndrome) with Addison's (primary adreal insufficiency), achalasia of the oesophagus and alacrima. Usually presents with isolated glucocorticoid insufficiency but may have salt loss. The phenotype can be variable and there may be an adrenal only presentation so it may be misdiagnosed as adrenal hypoplasia.Created: 7 Dec 2015, 2:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Triple A syndrome (Addisons, achalasia, alacrima)
Phenotypes for gene: AAAS were changed from Triple A syndrome (Addisons, achalasia, alacrima), 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Phenotypes for gene: AAAS were changed from Triple A syndrome (Addisons, achalasia, alacrima) to Triple A syndrome (Addisons, achalasia, alacrima), 231550
06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for gene AAAS were set to Triple A syndrome (Addisons, achalasia, alacrima)
AAAS was created by John Achermann
AAAS was added to Congenital adrenal hypoplasiapanel. Sources: Expert list