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  2. Hereditary Spastic Paraplegia - adult onset
  3. SACS
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Hereditary Spastic Paraplegia - adult onset

Gene: SACS

Green List (high evidence)
SACS (sacsin molecular chaperone)
EnsemblGeneIds (GRCh38): ENSG00000151835
EnsemblGeneIds (GRCh37): ENSG00000151835
OMIM: 604490, Gene2Phenotype
SACS is in 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Complex neurological phenotype but spasticity is prominent.
Sources: Expert list
Created: 18 Apr 2020, 8:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550

Created: 18 Apr 2020, 8:13 a.m.

Panel version: Imported from Hereditary Spastic Paraplegia - paediatric panel version 0.45

History Filter Activity

16 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Mar 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: SACS.

16 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type, 270550 to Spastic ataxia, Charlevoix-Saguenay type, 270550; MONDO:0010041

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SACS was added gene: SACS was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550