Activity
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12 actions
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| Hereditary neuropathy or pain disorder v6.163 | ADPRHL2 | Eleanor Williams commented on gene: ADPRHL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.163 | ADPRHL2 | Eleanor Williams Tag new-gene-name tag was added to gene: ADPRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.148 | ADPRHL2 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: ADPRHL2. Tag Q3_24_NHS_review was removed from gene: ADPRHL2. |
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| Hereditary neuropathy or pain disorder v6.148 | ADPRHL2 | Sarah Leigh edited their review of gene: ADPRHL2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | ADPRHL2 |
Sarah Leigh Source NHS GMS was added to ADPRHL2. Source Expert Review Green was added to ADPRHL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.50 | ADPRHL2 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADPRHL2. Tag Q3_24_NHS_review tag was added to gene: ADPRHL2. |
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| Hereditary neuropathy or pain disorder v5.50 | ADPRHL2 | Sarah Leigh reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.50 | ADPRHL2 | Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Neurodegeneration; childhood-onset; ataxia; seizure; axonal polyneuropathy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MONDO:0100095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.49 | ADPRHL2 | Sarah Leigh Publications for gene: ADPRHL2 were set to 30401461: 30100084 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.48 | ADPRHL2 | Sarah Leigh Classified gene: ADPRHL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.48 | ADPRHL2 | Sarah Leigh Gene: adprhl2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.16 | ADPRHL2 |
Alexander Rossor gene: ADPRHL2 was added gene: ADPRHL2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADPRHL2 were set to 30401461: 30100084 Phenotypes for gene: ADPRHL2 were set to Neurodegeneration; childhood-onset; ataxia; seizure; axonal polyneuropathy Penetrance for gene: ADPRHL2 were set to Complete Review for gene: ADPRHL2 was set to GREEN Added comment: Sources: Expert list |
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