Activity
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9 actions
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| Hereditary spastic paraplegia, childhood onset v1.166 | GAD1 | Louise Daugherty reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v1.165 | GAD1 |
Louise Daugherty Source Expert Review Amber was added to GAD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Hereditary spastic paraplegia, childhood onset v1.88 | GAD1 | Louise Daugherty Phenotypes for gene: GAD1 were changed from Cerebralpalsy,spasticquadriplegic,1,603513 to Cerebralpalsy, spasticquadriplegic, 1, 603513 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v1.87 | GAD1 | Louise Daugherty Mode of inheritance for gene: GAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v1.76 | GAD1 | Louise Daugherty Source NHS GMS was added to GAD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v1.75 | GAD1 | Louise Daugherty Source Yorkshire and North East GLH was added to GAD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v1.74 | GAD1 | Nick Beauchamp reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15571623, 28454995; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v1.3 | GAD1 | Louise Daugherty Added phenotypes Cerebralpalsy,spasticquadriplegic,1,603513 for gene: GAD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia, childhood onset v0.6 | GAD1 |
Sarah Leigh gene: GAD1 was added gene: GAD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: GAD1 was set to Phenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513 |
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