Congenital adrenal hypoplasia
Gene: AAASEnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS 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, 1:47 p.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Robust association with an overlapping condition.Created: 11 Sep 2016, 8:55 a.m.
John Achermann (UCL Institute of Child Health)
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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
- OMIM
- 605378
- Clinvar variants
- Variants in AAAS
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Congenital adrenal hypoplasia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Familial dysautonomia
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: AAAS were changed from Triple A syndrome (Addisons, achalasia, alacrima) to Triple A syndrome (Addisons, achalasia, alacrima), 231550
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene AAAS were set to Triple A syndrome (Addisons, achalasia, alacrima)
Created
John Achermann (UCL Institute of Child Health)AAAS was created by John Achermann
Added New Source
John Achermann (UCL Institute of Child Health)AAAS was added to Congenital adrenal hypoplasiapanel. Sources: Expert list