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Prepair 1000+

Gene: SACS

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: There is also a relatively common CNV.
Created: 24 Dec 2024, 3:21 a.m. | Last Modified: 24 Dec 2024, 3:21 a.m.
Panel Version: 1.888
Created: 24 Dec 2024, 3:21 a.m.
Last Modified: 24 Dec 2024, 3:21 a.m.
Panel version: 1.888

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. Degenerative progressive neurological disorder with onset usually in infancy or early childhood.

6594delT variant most common in French Canadian populations
Created: 19 Dec 2024, 5:09 a.m. | Last Modified: 19 Dec 2024, 5:09 a.m.
Panel Version: 1.836

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)

Publications

Created: 19 Dec 2024, 5:09 a.m.
Last Modified: 19 Dec 2024, 5:09 a.m.
Panel version: 1.836

History Filter Activity

24 Dec 2024, 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).

24 Dec 2024, 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 (3) to Spastic ataxia, Charlevoix-Saguenay type, MIM#270550

24 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SACS were set to

24 Dec 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) for gene: SACS

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SACS was added gene: SACS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)