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Newborns main 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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 20499090 - 10 patients PMID: 36194344 - 8 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Achalasia-addisonianism-alacrimia syndrome for gene: AAAS

20 Jul 2023, Gel status: 3

Set transcript

Mafalda Gomes (Genomics England Curator)

Transcript for gene AAAS was changed from None to hello

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Achalasia-addisonianism-alacrimia syndrome for gene: AAAS

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to AAAS. Added phenotypes Achalasia-addisonianism-alacrimia syndrome for gene: AAAS Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to AAAS. Added phenotypes Achalasia-addisonianism-alacrimia syndrome for gene: AAAS Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed was removed from gene: AAAS.

9 Mar 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed tag was added to gene: AAAS.

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Achalasia-addisonianism-alacrimia syndrome for gene: AAAS

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: AAAS was added gene: AAAS was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal