Regression
Gene: SQSTM1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

9 individuals (4 families) with childhood/adolescent onset neurodegeneration syndrome. 7/9 patients presented with dystonia.
Created: 10 Sep 2020, 8:59 a.m. | Last Modified: 10 Sep 2020, 8:59 a.m.

Panel Version: 0.154

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

27545679

Created: 10 Sep 2020, 8:59 a.m.
Last Modified: 10 Sep 2020, 8:59 a.m.
Panel version: 0.154

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

601530

Clinvar variants

Variants in SQSTM1

Penetrance

None

Publications

27545679

Panels with this gene