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| Severe Paediatric Disorders v1.176 | SQSTM1 | Tracy Lester reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, ataxia, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | SQSTM1 | Louise Daugherty reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | SQSTM1 | Louise Daugherty Publications for gene SQSTM1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | SQSTM1 | Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SQSTM1 | Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SQSTM1 | Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SQSTM1 | Louise Daugherty Added phenotypes Myopathy, distal, with rimmed vacuoles, 617158; Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SQSTM1 |
Louise Daugherty Mode of inheritance for gene SQSTM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1 |
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| Severe Paediatric Disorders v0.7 | SQSTM1 | Louise Daugherty Source Next Generation Children Project was added to SQSTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | SQSTM1 |
Louise Daugherty Source Expert Review Green was added to SQSTM1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | SQSTM1 |
Louise Daugherty gene: SQSTM1 was added gene: SQSTM1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SQSTM1 was set to |
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