Research panel - Severe Paediatric Disorders
Gene: SQSTM1

SQSTM1 (sequestosome 1)
EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 10 panels

3 reviews

Sarah Leigh (Genomics England Curator)

I don't know

In response to Tracey Lester's (Genetics laboratory, Oxford UK) comments, I can confirm that SQSTM1 not present on Paediatric disorders super panel (R27), as it is not on any of the component panels.
Created: 10 Oct 2024, 4:32 p.m. | Last Modified: 10 Oct 2024, 4:32 p.m.

Panel Version: 1.202

Created: 10 Oct 2024, 4:32 p.m.
Last Modified: 10 Oct 2024, 4:32 p.m.
Panel version: 1.202

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

The AD conditions associated with this gene have adult onset and therefore this gene should not be included in this panel with monogenic inheritance. The AR disorder can have onset in childhood, however this appears to be in later childhood so possibly also does not qualify to be a paediatric disorder. Probably shouldn't be included on the R27 panel to avoid incidental findings?
Created: 21 Nov 2023, 2:06 p.m. | Last Modified: 21 Nov 2023, 2:06 p.m.

Panel Version: 1.176

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration; ataxia; dystonia

Created: 21 Nov 2023, 2:06 p.m.
Last Modified: 21 Nov 2023, 2:06 p.m.
Panel version: 1.176

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SQSTM1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3) | Myopathy, distal, with rimmed vacuoles, 617158 (3) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3) | Paget disease of bone 3, 167250 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:26 p.m.
Last Modified: 20 Feb 2020, 5:26 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
Next Generation Children Project
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

OMIM

601530

Clinvar variants

Variants in SQSTM1

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

10 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sqstm1 has been classified as Amber List (Moderate Evidence).

20 Feb 2020, Gel status: 3