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  2. Familial dysautonomia
  3. AAAS
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Familial dysautonomia

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

2 reviews

Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 8 Dec 2016, 1:18 p.m.

Panel version: 1.2

Alice Gardham (Genomics England)

Green List (high evidence)

Comment when marking as ready: Recognised on G2P as causing dysautonomia
Created: 21 Nov 2016, 9:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achalasia-addisonianism-alacrimia syndrome, 231550

Publications

Created: 21 Nov 2016, 9:53 a.m.

Panel version: 0.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
  • Triple-A syndrome, MONDO:0009279
OMIM
605378
Clinvar variants
Variants in AAAS
Penetrance
Complete
Publications
Panels with this gene

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

1 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.

21 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

AAAS was added to Familial dysautonomiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory

21 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

AAAS was created by agardham