Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary ataxia with onset in adulthood v1.188 | VAMP1 | Louise Daugherty commented on gene: VAMP1: Added watchlist tag. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.174 | VAMP1 |
Louise Daugherty changed review comment from: Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group ; to: Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.14 | VAMP1 | Louise Daugherty commented on gene: VAMP1: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.13 | VAMP1 | Louise Daugherty Source London North GMS was added to VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.11 | VAMP1 | James Polke reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | VAMP1 | Louise Daugherty Added phenotypes Autosomal dominant spastic ataxia 1, 108600 for gene: VAMP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | VAMP1 | Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | VAMP1 | Tracy Lester reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant spastic ataxia 1, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | VAMP1 | Louise Daugherty Source NHS GMS was added to VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | VAMP1 | Louise Daugherty Source Wessex and West Midlands GLH was added to VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.5 | VAMP1 | Eleanor Williams Tag watchlist tag was added to gene: VAMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.2 | VAMP1 |
Eleanor Williams gene: VAMP1 was added gene: VAMP1 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600 |