Neurodegenerative disorders - adult onsetGene: SQSTM1
Onset in late adulthood
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437
Variants in this GENE are reported as part of current diagnostic practice
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.
Publications for gene SQSTM1 were changed from to 22084127; 22972638
Source Yorkshire and North East GLH was added to SQSTM1.
Mode of inheritance for gene: SQSTM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: sqstm1 has been classified as Green List (High Evidence).
Source NHS GMS was added to SQSTM1.
gene: SQSTM1 was added gene: SQSTM1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH Mode of inheritance for gene: SQSTM1 was set to