Hereditary neuropathy or pain disorder
Gene: AAASEnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS is in 11 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
AAAS variants have been associated with Achalasia-addisonianism-alacrimia syndrome (OMIM:231550) and as definitive G2P gene for the same condition. At least six variants have been reported in four unrelated cases of OMIM:231550, who also have neuropathy (PMID: 11062474;18628786;34796249).Created: 15 Oct 2024, 11:58 a.m. | Last Modified: 15 Oct 2024, 11:58 a.m.
Panel Version: 5.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Alexander Rossor (UCL Institute of Neurology)
Sources: Expert listCreated: 10 Oct 2024, 1 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACHALASIA; ADDISONIANISM; ALACRIMA; peripheral neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
- Triple-A syndrome, MONDO:0009279
- OMIM
- 605378
- Clinvar variants
- Variants in AAAS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- 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
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Hereditary ataxia
- Fetal anomalies
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: AAAS. Tag Q3_24_NHS_review was removed from gene: AAAS.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to AAAS. Source Expert Review Green was added to AAAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: AAAS. Tag Q3_24_NHS_review tag was added to gene: AAAS.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: AAAS were set to 34796249
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: AAAS were changed from ACHALASIA; ADDISONIANISM; ALACRIMA; peripheral neuropathy to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: aaas has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: AAAS was added gene: AAAS was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AAAS were set to 34796249 Phenotypes for gene: AAAS were set to ACHALASIA; ADDISONIANISM; ALACRIMA; peripheral neuropathy Penetrance for gene: AAAS were set to Complete Review for gene: AAAS was set to GREEN