Ataxia - paediatric
Gene: AAASEnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS is in 14 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is a feature of the condition and onset is usually in childhood.
Sources: Expert listCreated: 16 Apr 2020, 6:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome MIM#231550
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Intellectual disability is part of the phenotype of this multi-system syndromic condition.
Sources: Expert listCreated: 23 Nov 2019, 7:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Achalasia-addisonianism-alacrimia syndrome MIM#231550
- OMIM
- 605378
- Clinvar variants
- Variants in AAAS
- Penetrance
- None
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Hereditary Neuropathy - complex
- Ataxia - adult onset
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
- Autonomic neuropathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: aaas has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aaas has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AAAS was added gene: AAAS was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome MIM#231550 Review for gene: AAAS was set to GREEN