Distal myopathies
Gene: SQSTM1
SQSTM1 (sequestosome 1)
EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 10 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green after discussing with expert Dr BugiardiniCreated: 20 Feb 2017, 4:45 p.m.
One splice site mutation described in 2 brothers and in one unrelated man with Distal Myopathy with Rimmed Vacuoles. Mutations in this gene also cause complex neurodegenerative disorders including Frontotemporal dementia and/or amyotrophic lateral sclerosis (616437), Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset (617145) and Paget disease of bone 3 (167250). Gene added after discussion with Dr Bugiardini (UCL Insititute of Neurology)
Created: 9 Feb 2017, 2:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystal Myopathy with rimmed vacuoles, 617158
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Dystal Myopathy with rimmed vacuoles, 617158
- OMIM
- 601530
- Clinvar variants
- Variants in SQSTM1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Sarcoma susceptibility
- Ataxia and cerebellar anomalies - narrow panel
- Childhood solid tumours
- Sarcoma cancer susceptibility
- Distal myopathies
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset neurodegenerative disorder
History Filter Activity
22 Feb 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
20 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 Feb 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)SQSTM1 was created by arianna
9 Feb 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)SQSTM1 was added to Distal myopathiespanel. Sources: Expert Review