Gene Symbol:
SQSTM1
HGNC:11280
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5q35.3
Filters:

Ambry Genetics classifications

neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Submitted as: OMIM:617145
AR
11/06/2020
Evaluated
12/24/2020
Submitted

ClinGen classifications

frontotemporal dementia and/or amyotrophic lateral sclerosis 3
AD
12/13/2022
Evaluated
10/18/2023
Submitted

Genomics England PanelApp classifications

Paget disease of bone 3
Submitted as: OMIM:167250
AD
02/11/2021
Evaluated
03/31/2021
Submitted
frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Submitted as: OMIM:616437
AD
01/28/2021
Evaluated
03/31/2021
Submitted

Illumina classifications

neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
AR
11/18/2020
Evaluated
10/27/2022
Submitted

Invitae classifications

frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Submitted as: OMIM:616437
AD
09/17/2021
Evaluated
11/30/2023
Submitted
Paget disease of bone 3
Submitted as: OMIM:167250
AD
08/06/2019
Evaluated
11/30/2023
Submitted
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Submitted as: OMIM:617145
AR
08/23/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

amyotrophic lateral sclerosis
Submitted as: Orphanet:803
AD
09/14/2021
Evaluated
09/14/2021
Submitted
behavioral variant of frontotemporal dementia
Submitted as: Orphanet:275864
AD
09/14/2021
Evaluated
09/14/2021
Submitted
frontotemporal dementia with motor neuron disease
Submitted as: Orphanet:275872
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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