This Panel is marked as Internal
Test MOI validation panel - do not edit
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
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Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Allowed values MOI test - gene with 'other' MOI selected through web interface
- OMIM
- 605378
- Clinvar variants
- Variants in AAAS
- Penetrance
- None
- Panels with this gene
-
- Familial dysautonomia
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Congenital adrenal hypoplasia
History Filter Activity
20 Oct 2020, Gel status: 3
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: AAAS were changed from Test - gene with 'other' MOI selected through web interface to Allowed values MOI test - gene with 'other' MOI selected through web interface
19 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: aaas has been classified as Green List (High Evidence).
19 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: AAAS was added gene: AAAS was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: AAAS was set to Other Phenotypes for gene: AAAS were set to Test - gene with 'other' MOI selected through web interface