SQSTM1

sequestosome 1
OMIM: 601530, Gene2Phenotype

12 panels

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.17
Latest signed off version: v3.0 (22 Mar 2023)

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 Other rare neuromuscular disorders


    Version 19.199
    Latest signed off version: v19.1 (22 Mar 2023)

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


    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 4.15
    Latest signed off version: v4.0 (22 Mar 2023)

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

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.24

    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 1.26

    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


    Version 4.46
    Latest signed off version: v4.34 (31 Jul 2023)

    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 1.69

    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


    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 1.77
    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
    Amber SQSTM1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
    Tags
    • Q3_23_promote_green
    Green SQSTM1 in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Paget disease of bone 3, 167250
    • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437
    • Myopathy, distal, with rimmed vacuoles, 617158