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| Sarcoma susceptibility v1.17 | SQSTM1 | Arina Puzriakova Added comment: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.17 | SQSTM1 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.2 | SQSTM1 | Rebecca Foulger reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.0 | SQSTM1 |
Rebecca Foulger 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 |
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