Hereditary Neuropathy - complex

Gene: AAAS

Green List (high evidence)

AAAS (aladin WD repeat nucleoporin)
EnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autonomic neuropathy is a prominent part of the phenotype, motor axonal neuropathy also described.
Created: 30 Mar 2020, 6:37 a.m. | Last Modified: 30 Mar 2020, 6:37 a.m.
Panel Version: 0.15

Phenotypes
Achalasia-addisonianism-alacrimia syndrome, MIM# 231550

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Glucocorticoid deficiency with achalasia
  • Achalasia-addisonianism-alacrimia syndrome, MIM# 231550
OMIM
605378
Clinvar variants
Variants in AAAS
Penetrance
None
Panels with this gene

History Filter Activity

30 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aaas has been classified as Green List (High Evidence).

30 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AAAS were changed from HMSN; Glucocorticoid deficiency with achalasia to HMSN; Glucocorticoid deficiency with achalasia; Achalasia-addisonianism-alacrimia syndrome, MIM# 231550

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AAAS was added gene: AAAS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AAAS were set to HMSN; Glucocorticoid deficiency with achalasia