Activity
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10 actions
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| Hereditary neuropathy or pain disorder v6.148 | ADGRG6 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: ADGRG6. Tag Q3_24_NHS_review was removed from gene: ADGRG6. |
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| Hereditary neuropathy or pain disorder v6.148 | ADGRG6 | Sarah Leigh edited their review of gene: ADGRG6: 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 | ADGRG6 |
Sarah Leigh Source NHS GMS was added to ADGRG6. Source Expert Review Green was added to ADGRG6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.47 | ADGRG6 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ADGRG6. Tag Q3_24_NHS_review tag was added to gene: ADGRG6. |
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| Hereditary neuropathy or pain disorder v5.47 | ADGRG6 | Sarah Leigh reviewed gene: ADGRG6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.47 | ADGRG6 | Sarah Leigh Phenotypes for gene: ADGRG6 were changed from Lethal congenital contracture syndrome 9, OMIM:616503 to Lethal congenital contracture syndrome 9, OMIM:616503; lethal congenital contracture syndrome 9, MONDO:0014670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.46 | ADGRG6 | Sarah Leigh Phenotypes for gene: ADGRG6 were changed from lethal congenital contracture syndrome; lack of peripheral myelination to Lethal congenital contracture syndrome 9, OMIM:616503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.45 | ADGRG6 | Sarah Leigh Classified gene: ADGRG6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.45 | ADGRG6 | Sarah Leigh Gene: adgrg6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.16 | ADGRG6 |
Alexander Rossor gene: ADGRG6 was added gene: ADGRG6 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADGRG6 were set to 26004201 Phenotypes for gene: ADGRG6 were set to lethal congenital contracture syndrome; lack of peripheral myelination Penetrance for gene: ADGRG6 were set to Complete Review for gene: ADGRG6 was set to GREEN Added comment: 4 individuals, 3 unrelated families, absence of myelinated axons on post mortem Sources: Expert list |
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