Activity
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| Childhood onset hereditary spastic paraplegia v7.6 | BORCS8 | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: BORCS8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v7.6 | BORCS8 | Arina Puzriakova reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v7.5 | BORCS8 |
Arina Puzriakova Source Expert Review Green was added to BORCS8. Source NHS GMS was added to BORCS8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset hereditary spastic paraplegia v6.11 | BORCS8 | Arina Puzriakova Phenotypes for gene: BORCS8 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.10 | BORCS8 | Arina Puzriakova Tag gene-checked was removed from gene: BORCS8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.4 | BORCS8 | Arina Puzriakova Tag gene-checked tag was added to gene: BORCS8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.4 | BORCS8 | Sarah Leigh reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.4 | BORCS8 | Sarah Leigh Entity copied from Intellectual disability v7.41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.4 | BORCS8 |
Sarah Leigh gene: BORCS8 was added gene: BORCS8 was added to Childhood onset hereditary spastic paraplegia. Sources: Expert Review Amber,Literature Q3_24_promote_green tags were added to gene: BORCS8. Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS8 were set to 38128568 Phenotypes for gene: BORCS8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 |
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