Motor Neurone Disease
Gene: SQSTM1

SQSTM1 (sequestosome 1)
EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 11 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: ALS Spectrum Disorders GCEP classify the gene-disease association as Moderate, due to the lack of segregation evidence to support the GDA - https://search.clinicalgenome.org/CCID:006272
Created: 8 Dec 2024, 9:40 p.m. | Last Modified: 8 Dec 2024, 9:40 p.m.

Panel Version: 1.25

Created: 8 Dec 2024, 9:40 p.m.
Last Modified: 8 Dec 2024, 9:40 p.m.
Panel version: 1.25

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nine individuals from four unrelated families.
Created: 17 Apr 2020, 12:12 a.m. | Last Modified: 13 Sep 2020, 6:52 a.m.

Panel Version: 0.4395

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145

Publications

27545679

Created: 17 Apr 2020, 12:12 a.m.
Last Modified: 13 Sep 2020, 6:52 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.136

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Royal Melbourne Hospital
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640

OMIM

601530

Clinvar variants

Variants in SQSTM1

Penetrance

None

Panels with this gene