1. Genes and Genomic Entities
  2. SACS

SACS

sacsin molecular chaperone
OMIM: 604490, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels
Green SACS in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.67
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Spastic ataxia, Charlevoix-Saguenay type
    Green SACS in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic ataxia, Charlevoix-Saguenay type
    Green SACS in Albinism or congenital nystagmus


    Level 2: Ophthalmology
    Version 4.2
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic ataxia, Charlevoix-Saguenay type 270550 AR
    Green SACS in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.316

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic ataxia, Charlevoix-Saguenay type
    Green SACS in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.37
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic ataxia, Charlevoix-Saguenay type, 270550
    Green SACS in Adult onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic ataxia, Charlevoix-Saguenay type, 270550
    Red SACS in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.16
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic ataxia, Charlevoix-Saguenay type
    Green SACS in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.643

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
    • Spastic ataxia, Charlevoix-Saguenay type
    Green SACS in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.98
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Spastic ataxia, Charlevoix-Saguenay type
    • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
    Green SACS in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Spastic ataxia, Charlevoix-Saguenay type, 270550
    Amber SACS in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
    Green SACS in DDG2P


    Version 6.426
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 270550
    Green SACS in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Hereditary Neuropathies
    Amber SACS in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    Phenotypes
    • Spastic ataxia, Charlevoix-Saguenay type, 270550
    • Autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS
    • Intellectual disability
    Green SACS in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
    • Spastic ataxia, Charlevoix-Saguenay type
    Green SACS in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.26
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Charlevoix-Saguenay spastic ataxia, 270550
    • Spastic ataxia, Charlevoix-Saguenay type
    Green SACS in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.43
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Neuropathies
    Amber SACS in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Spastic ataxia, Charlevoix-Saguenay type, 270550