Activity
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9 actions
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| Retinal disorders v2.243 | TRAF3IP1 | Ivone Leong Tag for-review was removed from gene: TRAF3IP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | TRAF3IP1 | Ivone Leong commented on gene: TRAF3IP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | TRAF3IP1 |
Ivone Leong Source Expert Review Green was added to TRAF3IP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.150 | TRAF3IP1 | Ivone Leong Classified gene: TRAF3IP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.150 | TRAF3IP1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.150 | TRAF3IP1 | Ivone Leong Gene: traf3ip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.149 | TRAF3IP1 | Ivone Leong Tag for-review tag was added to gene: TRAF3IP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.149 | TRAF3IP1 | Ivone Leong Phenotypes for gene: TRAF3IP1 were changed from Senior-Loken syndrome 9, MIM#616629 to Senior-Loken syndrome 9, OMIM:616629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.20 | TRAF3IP1 |
Zornitza Stark gene: TRAF3IP1 was added gene: TRAF3IP1 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAF3IP1 were set to 26487268 Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9, MIM#616629 Review for gene: TRAF3IP1 was set to GREEN Added comment: At least 5 families reported with retinal degeneration as a feature of the condition and a zebrafish model with retinal degeneration. Sources: Expert list |
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