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| Adult onset neurodegenerative disorder v1.106 | BCAP31 | Louise Daugherty edited their review of gene: BCAP31: 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 | BCAP31 |
Louise Daugherty Source Expert Review Red was added to BCAP31. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Adult onset neurodegenerative disorder v1.91 | BCAP31 | Louise Daugherty Mode of inheritance for gene: BCAP31 was changed from Unknown to 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 | BCAP31 | Louise Daugherty commented on gene: BCAP31: 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 | BCAP31 | Nick Beauchamp reviewed gene: BCAP31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Deafness, dystonia and cerebellar hypomyelination, 300475; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | BCAP31 | Louise Daugherty Source Yorkshire and North East GLH was added to BCAP31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.20 | BCAP31 | Louise Daugherty Classified gene: BCAP31 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.20 | BCAP31 | Louise Daugherty Gene: bcap31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.7 | BCAP31 | Louise Daugherty reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.6 | BCAP31 | Anthony Dallosso reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Deafness, dystonia and cerebellar hypomyelination, 300475; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.5 | BCAP31 | Louise Daugherty Source NHS GMS was added to BCAP31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.4 | BCAP31 | Louise Daugherty Source South West GLH was added to BCAP31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | BCAP31 |
Rebecca Foulger gene: BCAP31 was added gene: BCAP31 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: BCAP31 was set to Unknown Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475 |
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