Congenital adrenal hypoplasia

Gene: AAAS

Green List (high evidence)

AAAS (aladin WD repeat nucleoporin)
EnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS is in 10 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)

Green List (high evidence)

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)

History Filter Activity

15 Jul 2019, Gel status: 3

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

6 Feb 2017, Gel status: 4

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.

11 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

11 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

7 Dec 2015, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene AAAS were set to Triple A syndrome (Addisons, achalasia, alacrima)

7 Dec 2015, Gel status: 0

Created

John Achermann (UCL Institute of Child Health)

AAAS was created by John Achermann

7 Dec 2015, Gel status: 0

Added New Source

John Achermann (UCL Institute of Child Health)

AAAS was added to Congenital adrenal hypoplasiapanel. Sources: Expert list