Activity
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9 actions
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| Hereditary neuropathy or pain disorder v6.148 | CLP1 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: CLP1. Tag Q3_24_NHS_review was removed from gene: CLP1. |
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| Hereditary neuropathy or pain disorder v6.148 | CLP1 | Sarah Leigh commented on gene: CLP1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | CLP1 |
Sarah Leigh Source NHS GMS was added to CLP1. Source Expert Review Green was added to CLP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.35 | CLP1 | Sarah Leigh Phenotypes for gene: CLP1 were changed from pontocerbeelar hypoplasia, peripheral neuropathy to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.21 | CLP1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CLP1. Tag Q3_24_NHS_review tag was added to gene: CLP1. |
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| Hereditary neuropathy or pain disorder v6.21 | CLP1 | Sarah Leigh Classified gene: CLP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.21 | CLP1 | Sarah Leigh Gene: clp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.20 | CLP1 | Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24766810, 23474986, 24766809, 29307788; Phenotypes: Pontocerebellar hypoplasia 10 OMIM:615803, Pontocerebellar hypoplasia type 10 MONDO:0014349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | CLP1 |
Alexander Rossor gene: CLP1 was added gene: CLP1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLP1 were set to 24766809 Phenotypes for gene: CLP1 were set to pontocerbeelar hypoplasia, peripheral neuropathy Penetrance for gene: CLP1 were set to Complete Review for gene: CLP1 was set to GREEN Added comment: Multiple affected individuals with peripheral neuropathy on ncs Sources: Expert list |
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