Genomics England
GMS Panels
Panels
Genes and Entities

AAAS

aladin WD repeat nucleoporin
OMIM: 605378
PanelMode of inheritanceDetails
6 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome, 231550
Green
in Congenital adrenal hypoplasia
R-numbers: R150
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Triple A syndrome (Addisons, achalasia, alacrima), 231550
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550
Green
in Fetal anomalies
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome, 231550, Triple A syndrome, 231550
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome 231550