Hereditary Spastic Paraplegia - paediatric
Gene: AAASEnsemblGeneIds (GRCh38): ENSG00000094914
EnsemblGeneIds (GRCh37): ENSG00000094914
OMIM: 605378, Gene2Phenotype
AAAS is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Two families reported with complicated HSP.
Sources: Expert listCreated: 6 Mar 2020, 6:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achalasia-addisonianism-alacrimia syndrome MIM#231550; complicated hereditary spastic paraplegia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Achalasia-addisonianism-alacrimia syndrome MIM#231550
- complicated hereditary spastic paraplegia
- OMIM
- 605378
- Clinvar variants
- Variants in AAAS
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aaas has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: aaas has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: AAAS was added gene: AAAS was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AAAS were set to 30381913 Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome MIM#231550; complicated hereditary spastic paraplegia Review for gene: AAAS was set to AMBER