AAAS

aladin WD repeat nucleoporin
OMIM: 605378, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red AAAS in Mendeliome Version 1.2302	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Phenotypes Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Green AAAS in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Green AAAS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Green AAAS in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.18 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes Triple A syndrome, 231550 Achalasia-addisonianism-alacrimia syndrome, 231550
Green AAAS in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Phenotypes Achalasia-addisonianism-alacrimia syndrome MIM#231550
Amber AAAS in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.86 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Achalasia-addisonianism-alacrimia syndrome MIM#231550 complicated hereditary spastic paraplegia
Green AAAS in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.19 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Glucocorticoid deficiency with achalasia Achalasia-addisonianism-alacrimia syndrome, MIM# 231550
Green AAAS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Green AAAS in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Achalasia-addisonianism-alacrimia syndrome
Green AAAS in Autonomic neuropathy Level 2: Autonomic Neuropathy Version 0.51	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes OMIM# 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME AAAS
Red AAAS in Fetal anomalies Version 1.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Triple-A syndrome, MONDO:0009279 Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
Green AAAS in Prepair 1000+ Level 2: Screening Version 1.1566	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Green AAAS in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Achalasia-addisonianism-alacrimia syndrome, MIM#231550 Tags treatable endocrine
Green AAAS in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 (3)