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Hereditary neuropathy NOT PMP22 copy number

Gene: SACS

Amber List (moderate evidence)

SACS (sacsin molecular chaperone)
EnsemblGeneIds (GRCh38): ENSG00000151835
EnsemblGeneIds (GRCh37): ENSG00000151835
OMIM: 604490, Gene2Phenotype
SACS is in 19 panels

7 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Created: 6 Dec 2019, 8:27 p.m. | Last Modified: 6 Dec 2019, 8:27 p.m.
Panel Version: 0.65
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see
Created: 6 Dec 2019, 8:26 p.m. | Last Modified: 6 Dec 2019, 8:26 p.m.
Panel Version: 0.64
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (Genomics England Curator)

Comment on list classification: Complex phnenotype; caution in reporting in absence of other features
Created: 8 Jul 2016, 4:39 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Is a probable DD gene for spastic ataxia charlevoix-saguenay type.
Created: 5 May 2016, 9:33 a.m.

Alexander Rossor (UCL Institute of Neurology)

Complex phenotype, not CMT
Created: 9 Dec 2015, 8:50 a.m.

Mary Reilly (Institute of Neurology)

Complex phenotype, not CMT
Created: 8 Dec 2015, 3:06 p.m.

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

5 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: SACS was added gene: SACS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Hereditary Neuropathies