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Adult onset neurodegenerative disorder v2.66 | CYP27A1 | Ivone Leong Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, OMIM:213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.106 | SPR | Louise Daugherty edited their review of gene: SPR: 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 | SPR |
Louise Daugherty Source Expert Review Red was added to SPR. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Adult onset neurodegenerative disorder v1.101 | SPR | Louise Daugherty commented on gene: SPR: 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 | SPR | Louise Daugherty Source Wessex and West Midlands GLH was added to SPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.99 | SPR | Tracy Lester reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: paediatric form of dopa responsive dystonia, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716, Dopa-Responsive Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.99 | CYP27A1 | Tracy Lester reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.74 | SPR | Louise Daugherty commented on gene: SPR: 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 | SPR | Nick Beauchamp reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: paediatric form of dopa responsive dystonia, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716, Dopa-Responsive Dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.72 | CYP27A1 | Nick Beauchamp reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.67 | SPR | Louise Daugherty Source Yorkshire and North East GLH was added to SPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.11 | SPR | Louise Daugherty reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.10 | SPR | James Polke reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.9 | SPR | Louise Daugherty Source NHS GMS was added to SPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.8 | SPR | Louise Daugherty Source London North GLH was added to SPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.91 | CYP27A1 | Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from Dystonia; progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.11 | CYP27A1 | Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from Dystonia to Dystonia; progressive lower extremity spasticity,often disproportionate to any degree of weakness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.2 | SPR | Rebecca Foulger Tag treatable tag was added to gene: SPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.2 | SPR | Rebecca Foulger Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; paediatric form of dopa responsive dystonia; Dopa-Responsive Dystonia for gene: SPR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.2 | SPR | Rebecca Foulger Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 for gene: SPR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.2 | SPR |
Rebecca Foulger gene: SPR was added gene: SPR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443 Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; paediatric form of dopa responsive dystonia; Dopa-Responsive Dystonia |