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  3. SQSTM1
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Neurodegeneration with brain iron accumulation

Gene: SQSTM1

Red List (low evidence)
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: Only single family reported with iron accumulation
Created: 20 Apr 2024, 4:32 a.m. | Last Modified: 20 Apr 2024, 4:32 a.m.
Panel Version: 0.33
Created: 20 Apr 2024, 4:32 a.m.
Last Modified: 20 Apr 2024, 4:32 a.m.
Panel version: 0.33

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 14 Feb 2024, 2:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ataxia; dystonia; gaze palsy; neuroregression; cognitive decline; childhood dementia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2024, 2:25 p.m.

Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ataxia
  • dystonia
  • gaze palsy
  • neuroregression
  • cognitive decline
  • childhood dementia
OMIM
601530
Clinvar variants
Variants in SQSTM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sqstm1 has been classified as Red List (Low Evidence).

20 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sqstm1 has been classified as Red List (Low Evidence).

14 Feb 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: SQSTM1 was added gene: SQSTM1 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SQSTM1 were set to 27545679 Phenotypes for gene: SQSTM1 were set to ataxia; dystonia; gaze palsy; neuroregression; cognitive decline; childhood dementia Review for gene: SQSTM1 was set to GREEN gene: SQSTM1 was marked as current diagnostic