Activity
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10 actions
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| Hereditary neuropathy or pain disorder v6.148 | UCHL1 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: UCHL1. Tag Q3_24_NHS_review was removed from gene: UCHL1. |
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| Hereditary neuropathy or pain disorder v6.148 | UCHL1 | Sarah Leigh reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | UCHL1 |
Sarah Leigh Source NHS GMS was added to UCHL1. Source Expert Review Green was added to UCHL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.84 | UCHL1 | Arina Puzriakova Publications for gene: UCHL1 were set to 35986737 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.83 | UCHL1 | Arina Puzriakova Classified gene: UCHL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.83 | UCHL1 | Arina Puzriakova Added comment: Comment on list classification: Sensorimotor neuropathy has been reported in both Spastic paraplegia 79A, autosomal dominant, OMIM:620221 and Spastic paraplegia 79B, autosomal recessive, OMIM:615491. Sufficient unrelated cases for both MOIs to promote to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.83 | UCHL1 | Arina Puzriakova Gene: uchl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.82 | UCHL1 |
Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: UCHL1. Tag Q3_24_NHS_review tag was added to gene: UCHL1. |
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| Hereditary neuropathy or pain disorder v5.82 | UCHL1 | Arina Puzriakova Phenotypes for gene: UCHL1 were changed from spasticity; ataxia; peripheral neuropathy to Spastic paraplegia 79B, autosomal recessive, OMIM:615491; Spastic paraplegia 79A, autosomal dominant, OMIM:620221 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | UCHL1 |
Alexander Rossor gene: UCHL1 was added gene: UCHL1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: UCHL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: UCHL1 were set to 35986737 Phenotypes for gene: UCHL1 were set to spasticity; ataxia; peripheral neuropathy Penetrance for gene: UCHL1 were set to Complete |
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