1. Genes and Genomic Entities
  2. SQSTM1

SQSTM1

sequestosome 1
OMIM: 601530, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green SQSTM1 in Distal myopathies


Level 2: Neurology
Version 6.18
Latest signed off version: v6.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Dystal Myopathy with rimmed vacuoles, 617158
    Green SQSTM1 in Ataxia and cerebellar anomalies - narrow panel


    Level 2: Neurology
    Version 8.85
    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
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
    Red SQSTM1 in Childhood solid tumours


    Level 2: Cancer susceptibility
    Version 5.10
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert List
    Green SQSTM1 in Sarcoma cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.26

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Paget disease of bone 3 167250
    • Osteosarcoma
    Amber SQSTM1 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.30

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    Phenotypes
    • Paget disease of bone 3 167250
    • Osteosarcoma
    Green SQSTM1 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.21
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437
    No list SQSTM1 in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.74

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
    Green SQSTM1 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145
    Green SQSTM1 in Sarcoma susceptibility


    Level 2: Cancer susceptibility
    Version 1.82
    Latest signed off version: v1.2 (18 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Paget disease of bone 3, OMIM:167250
    • Paget disease of bone 3, MONDO:0008176
    • Osteosarcoma (disease), MONDO:0009807
    Green SQSTM1 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.25
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145