Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Regression v0.322 AAAS Zornitza Stark Marked gene: AAAS as ready
Regression v0.322 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Regression v0.322 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Regression v0.321 AAAS Zornitza Stark Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.320 AAAS Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype of this multi-system syndromic condition.
Sources: Expert list; to: The association of adrenal and neurologic disease is similar to that in X-linked adrenoleukodystrophy, and neurological features are progressive.
Sources: Expert list
Regression v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AAAS was set to Unknown