Genes in panel
Prev Next

Ataxia and cerebellar anomalies - narrow panel

Gene: AAAS

Green List (high evidence)

AAAS (aladin WD repeat nucleoporin)
EnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS is in 11 panels

0 reviews

History Filter Activity

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