Ataxia and cerebellar anomalies - narrow panel
Gene: AAAS
AAAS (aladin WD repeat nucleoporin)
EnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS is in 11 panels
0 reviews
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
- None
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Congenital adrenal hypoplasia
- Familial dysautonomia
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Fetal anomalies
History Filter Activity
18 Dec 2020, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AAAS were changed from Achalasia-addisonianism-alacrimia syndrome, 231550 to Achalasia-addisonianism-alacrimia syndrome, OMIM:231550; Triple-A syndrome, MONDO:0009279
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: AAAS was added gene: AAAS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal