Activity
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| Intellectual disability v2.1084 | SMG9 | Catherine Snow Publications for gene: SMG9 were set to 27018474; 30914295 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.1083 | SMG9 | Catherine Snow edited their review of gene: SMG9: Added comment: Maintaining Amber rating as although another individual with a variant has been identified in PMID: 31390136 there are still only full details of serve developmental delays for 2 unrelated families due to the young age of death of one reported individual in 27018474; Changed publications: 31390136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.1047 | SMG9 | Konstantinos Varvagiannis reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27018474, 31390136; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.981 | SMG9 | Catherine Snow Tag watchlist tag was added to gene: SMG9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.979 | SMG9 | Catherine Snow Mode of inheritance for gene SMG9 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.978 | SMG9 |
Catherine Snow gene: SMG9 was added gene: SMG9 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SMG9 was set to Publications for gene: SMG9 were set to 27018474; 30914295 Phenotypes for gene: SMG9 were set to Heart and brain malformation syndrome, 616920 |
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