Hereditary ataxia with onset in adulthood
Gene: SQSTM1EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 10 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Sufficient families in primary publication. Note that AD phenotypes in OMIM are not relevant - heterozygous variants not to be reportedCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145
- OMIM
- 601530
- Clinvar variants
- Variants in SQSTM1
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: sqstm1 has been classified as Green List (High Evidence).
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: SQSTM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 for gene: SQSTM1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SQSTM1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SQSTM1 was added gene: SQSTM1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SQSTM1 was set to