Activity
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11 actions
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| Hereditary neuropathy or pain disorder v6.148 | EXOSC3 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: EXOSC3. Tag Q3_24_NHS_review was removed from gene: EXOSC3. |
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| Hereditary neuropathy or pain disorder v6.148 | EXOSC3 | Sarah Leigh reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | EXOSC3 |
Sarah Leigh Source NHS GMS was added to EXOSC3. Source Expert Review Green was added to EXOSC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.102 | EXOSC3 | Eleanor Williams Phenotypes for gene: EXOSC3 were changed from pontocerebellar hypoplasia; motor neuropathy to Pontocerebellar hypoplasia, type 1B, OMIM:614678; pontocerebellar hypoplasia type 1B, MONDO:0013853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.101 | EXOSC3 | Eleanor Williams Publications for gene: EXOSC3 were set to 23564332:24524299:25149867:12548734 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.97 | EXOSC3 | Eleanor Williams Classified gene: EXOSC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.97 | EXOSC3 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber with a proposal to promote to green following NHS GMS review. There are sufficient cases with a relevant phenotype and variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.97 | EXOSC3 | Eleanor Williams Gene: exosc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.96 | EXOSC3 |
Eleanor Williams Tag Q3_24_promote_green tag was added to gene: EXOSC3. Tag Q3_24_NHS_review tag was added to gene: EXOSC3. |
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| Hereditary neuropathy or pain disorder v5.96 | EXOSC3 | Eleanor Williams reviewed gene: EXOSC3: Rating: ; Mode of pathogenicity: None; Publications: 23564332, 24524299, 25149867, 12548734; Phenotypes: Pontocerebellar hypoplasia, type 1B, OMIM:614678, pontocerebellar hypoplasia type 1B, MONDO:0013853; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | EXOSC3 |
Alexander Rossor gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 23564332:24524299:25149867:12548734 Phenotypes for gene: EXOSC3 were set to pontocerebellar hypoplasia; motor neuropathy Penetrance for gene: EXOSC3 were set to Complete Review for gene: EXOSC3 was set to GREEN Added comment: Sources: Expert list |
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