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Adult onset hereditary spastic paraplegia v0.155 | DARS | Louise Daugherty Tag new-gene-name tag was added to gene: DARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.155 | DARS | Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.148 | DARS | Louise Daugherty commented on gene: DARS: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.146 | DARS | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.54 | DARS | Louise Daugherty Source Yorkshire and North East GLH was added to DARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | DARS | Louise Daugherty commented on gene: DARS: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.52 | DARS | Nick Beauchamp reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643384, 25527264; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.42 | DARS | Louise Daugherty commented on gene: DARS: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.30 | DARS |
Louise Daugherty Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS Publications for gene DARS were changed from to 23643384; 25527264 |
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Adult onset hereditary spastic paraplegia v0.29 | DARS | Chris Buxton reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 23643384, 25527264; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.28 | DARS | Louise Daugherty Source South West GLH was added to DARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.6 | DARS | Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.5 | DARS | James Polke reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.4 | DARS |
Louise Daugherty Source Expert Review Green was added to DARS. Mode of inheritance for gene DARS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Adult onset hereditary spastic paraplegia v0.3 | DARS | Louise Daugherty Source NHS GMS was added to DARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.2 | DARS |
Louise Daugherty gene: DARS was added gene: DARS was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: DARS was set to |