Activity
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15 actions
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| Hereditary spastic paraplegia, adult onset v0.148 | DSTYK | Louise Daugherty commented on gene: DSTYK: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.147 | DSTYK |
Louise Daugherty Source Expert Review Amber was added to DSTYK. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Hereditary spastic paraplegia, adult onset v0.146 | DSTYK | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.54 | DSTYK | Louise Daugherty Source Yorkshire and North East GLH was added to DSTYK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.53 | DSTYK | Louise Daugherty commented on gene: DSTYK: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.52 | DSTYK | Nick Beauchamp reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.42 | DSTYK | Louise Daugherty commented on gene: DSTYK: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.30 | DSTYK |
Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750 for gene: DSTYK Publications for gene DSTYK were changed from to 28157540 |
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| Hereditary spastic paraplegia, adult onset v0.29 | DSTYK | Chris Buxton reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Spastic paraplegia 23, 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.28 | DSTYK | Louise Daugherty Source South West GLH was added to DSTYK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.6 | DSTYK | Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.5 | DSTYK | James Polke reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital anomalies of kidney and urinary tract 1, 610805, AD, Spastic paraplegia 23, 270750, AR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.4 | DSTYK |
Louise Daugherty Source Expert Review Green was added to DSTYK. Mode of inheritance for gene DSTYK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 23, 270750, AR; Congenital anomalies of kidney and urinary tract 1, 610805, AD for gene: DSTYK Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Hereditary spastic paraplegia, adult onset v0.3 | DSTYK | Louise Daugherty Source NHS GMS was added to DSTYK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, adult onset v0.2 | DSTYK |
Louise Daugherty gene: DSTYK was added gene: DSTYK was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: DSTYK was set to |
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