Hereditary Neuropathy - complex
Gene: AAAS
AAAS (aladin WD repeat nucleoporin)
EnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Hereditary Neuropathy - complex
- Ataxia - adult onset
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
- Autonomic neuropathy
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