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

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

Supportive 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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