Activity
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11 actions
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| Hereditary neuropathy or pain disorder v6.148 | ADCY6 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: ADCY6. Tag Q3_24_NHS_review was removed from gene: ADCY6. |
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| Hereditary neuropathy or pain disorder v6.148 | ADCY6 | Sarah Leigh edited their review of gene: ADCY6: 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 | ADCY6 |
Sarah Leigh Source NHS GMS was added to ADCY6. Source Expert Review Green was added to ADCY6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.44 | ADCY6 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADCY6. Tag Q3_24_NHS_review tag was added to gene: ADCY6. |
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| Hereditary neuropathy or pain disorder v5.44 | ADCY6 | Sarah Leigh reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.44 | ADCY6 | Sarah Leigh Publications for gene: ADCY6 were set to 31846058: 26257172: 24319099 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.43 | ADCY6 | Sarah Leigh Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM:616287 to Lethal congenital contracture syndrome 8, OMIM:616287; lethal congenital contracture syndrome 8, MONDO:0014570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.42 | ADCY6 | Sarah Leigh Phenotypes for gene: ADCY6 were changed from lethal congenital contracture syndrome; loss of axons to Lethal congenital contracture syndrome 8, OMIM:616287 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.41 | ADCY6 | Sarah Leigh Classified gene: ADCY6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.41 | ADCY6 | Sarah Leigh Gene: adcy6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.16 | ADCY6 |
Alexander Rossor gene: ADCY6 was added gene: ADCY6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADCY6 were set to 31846058: 26257172: 24319099 Phenotypes for gene: ADCY6 were set to lethal congenital contracture syndrome; loss of axons Penetrance for gene: ADCY6 were set to Complete Review for gene: ADCY6 was set to GREEN Added comment: Sources: Expert list |
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