Hereditary Spastic Paraplegia - paediatric

Gene: AAAS

Amber List (moderate evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two families reported with complicated HSP.
Sources: Expert list
Created: 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

History Filter Activity

6 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aaas has been classified as Amber List (Moderate Evidence).

6 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aaas has been classified as Amber List (Moderate Evidence).

6 Mar 2020, Gel status: 1

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