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Adult onset neurodegenerative disorder v2.201 AP1S2 Arina Puzriakova Phenotypes for gene: AP1S2 were changed from Dystonia; Mental retardation, X-linked syndromic 5, 304340 to Pettigrew syndrome, OMIM:304340
Adult onset neurodegenerative disorder v1.106 AP1S2 Louise Daugherty edited their review of gene: AP1S2: 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 AP1S2 Louise Daugherty Source Expert Review Red was added to AP1S2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.101 AP1S2 Louise Daugherty commented on gene: AP1S2: 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 AP1S2 Louise Daugherty Source Wessex and West Midlands GLH was added to AP1S2.
Adult onset neurodegenerative disorder v1.99 AP1S2 Tracy Lester reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Mental retardation, X-linked syndromic 5, 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.74 AP1S2 Louise Daugherty commented on gene: AP1S2: 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 AP1S2 Nick Beauchamp reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Mental retardation, X-linked syndromic 5, 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.67 AP1S2 Louise Daugherty Source Yorkshire and North East GLH was added to AP1S2.
Adult onset neurodegenerative disorder v1.11 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP1S2 James Polke reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 AP1S2 Louise Daugherty Source NHS GMS was added to AP1S2.
Adult onset neurodegenerative disorder v1.8 AP1S2 Louise Daugherty Source London North GLH was added to AP1S2.
Adult onset neurodegenerative disorder v0.148 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from Dystonia to Dystonia; Mental retardation, X-linked syndromic 5, 304340
Adult onset neurodegenerative disorder v0.2 AP1S2 Rebecca Foulger Added phenotypes Dystonia for gene: AP1S2
Adult onset neurodegenerative disorder v0.2 AP1S2 Rebecca Foulger gene: AP1S2 was added
gene: AP1S2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)