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Adult onset neurodegenerative disorder v1.106 SLC2A1 Louise Daugherty edited their review of gene: SLC2A1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.105 SLC2A1 Louise Daugherty Source Expert Review Red was added to SLC2A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.101 SLC2A1 Louise Daugherty commented on gene: SLC2A1: 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. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.100 SLC2A1 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC2A1.
Adult onset neurodegenerative disorder v1.99 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUT1 DEFICIENCY SYNDROME 1, dystonia 9, GLUT1 deficiency syndrome 1, infantile onset, severe, EPILEPSY, IDIOPATHIC GENERALIZED, Dystonia, GLUT1 deficiency syndrome 2, childhood onset, GLUT1 deficiency syndrome 1, 606777, paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia, GLUT1 deficiency syndrome 1, GLUT1 deficiency syndrome 2, spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.74 SLC2A1 Louise Daugherty commented on gene: SLC2A1: 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.
Adult onset neurodegenerative disorder v1.72 SLC2A1 Nick Beauchamp reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.67 SLC2A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A1.
Adult onset neurodegenerative disorder v1.11 SLC2A1 Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Adult onset neurodegenerative disorder v1.8 SLC2A1 Louise Daugherty Source London North GLH was added to SLC2A1.
Adult onset neurodegenerative disorder v0.103 SLC2A1 Rebecca Foulger Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546; 11136715; 21832227; 18606970
Adult onset neurodegenerative disorder v0.27 SLC2A1 Rebecca Foulger Phenotypes for gene: SLC2A1 were changed from GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 to GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; spastic paraplegia
Adult onset neurodegenerative disorder v0.26 SLC2A1 Rebecca Foulger Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546
Adult onset neurodegenerative disorder v0.2 SLC2A1 Rebecca Foulger Added phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 for gene: SLC2A1
Adult onset neurodegenerative disorder v0.2 SLC2A1 Rebecca Foulger Added phenotypes GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; EPILEPSY, IDIOPATHIC GENERALIZED; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia for gene: SLC2A1
Adult onset neurodegenerative disorder v0.2 SLC2A1 Rebecca Foulger gene: SLC2A1 was added
gene: SLC2A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546