Sarcoma susceptibilityGene: SQSTM1
Comment on phenotypes: This gene is also associated with Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437; Myopathy, distal, with rimmed vacuoles, OMIM:617158; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Created: 11 Mar 2021, 10:19 a.m. | Last Modified: 11 Mar 2021, 10:19 a.m.
Panel Version: 1.17
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: agreed that there is enough evidence to rate this gene green.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2
This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees this should be included on this panel.
Created: 20 Aug 2018, 1:30 p.m.
Gene and evidence provided by Adrienne Flanagan, UCL.
Created: 14 May 2018, 3:42 p.m.
Phenotypes for gene: SQSTM1 were changed from Osteosarcoma; Paget disease of bone 3 167250 to Paget disease of bone 3, OMIM:167250; Paget disease of bone 3, MONDO:0008176; Osteosarcoma (disease), MONDO:0009807
gene: SQSTM1 was added gene: SQSTM1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SQSTM1 were set to 21437228; 11473345; 9345096; 12374763 Phenotypes for gene: SQSTM1 were set to Osteosarcoma; Paget disease of bone 3 167250