Activity
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9 actions
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| Hereditary neuropathy or pain disorder v6.148 | AP5Z1 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: AP5Z1. Tag Q3_24_NHS_review was removed from gene: AP5Z1. |
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| Hereditary neuropathy or pain disorder v6.148 | AP5Z1 | Sarah Leigh commented on gene: AP5Z1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | AP5Z1 |
Sarah Leigh Source NHS GMS was added to AP5Z1. Source Expert Review Green was added to AP5Z1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.26 | AP5Z1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: AP5Z1. Tag Q3_24_NHS_review tag was added to gene: AP5Z1. |
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| Hereditary neuropathy or pain disorder v6.20 | AP5Z1 | Sarah Leigh reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20613862: 24833714; Phenotypes: Spastic paraplegia 48, autosomal recessive, OMIM:613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.64 | AP5Z1 | Sarah Leigh Phenotypes for gene: AP5Z1 were changed from spasticity; ataxia; retinopathy; neuropathy; parkinsonism to Spastic paraplegia 48, autosomal recessive, OMIM:613647; hereditary spastic paraplegia 48, MONDO:0013342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.63 | AP5Z1 | Sarah Leigh Classified gene: AP5Z1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.63 | AP5Z1 | Sarah Leigh Gene: ap5z1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | AP5Z1 |
Alexander Rossor gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to 26085577 Phenotypes for gene: AP5Z1 were set to spasticity; ataxia; retinopathy; neuropathy; parkinsonism Penetrance for gene: AP5Z1 were set to Complete Review for gene: AP5Z1 was set to AMBER Added comment: only a single patient with neuropathy Sources: Expert list |
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