Activity
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8 actions
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| Retinal disorders v8.98 | IDH3G | Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 11 March 2026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.98 | IDH3G | Eleanor Williams Phenotypes for gene: IDH3G were changed from X-linked retinitis pigmentosa to Retinitis pigmentosa 99, OMIM:301148, retinitis pigmentosa 99, MONDO:0978291 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.97 | IDH3G | Eleanor Williams Tag Q1_25_ promote_green was removed from gene: IDH3G. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.97 | IDH3G | Eleanor Williams reviewed gene: IDH3G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.96 | IDH3G |
Eleanor Williams Source NHS GMS was added to IDH3G. Source Expert Review Green was added to IDH3G. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v7.21 | IDH3G | Sarah Leigh Classified gene: IDH3G as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.21 | IDH3G | Sarah Leigh Gene: idh3g has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.20 | IDH3G |
Sarah Leigh gene: IDH3G was added gene: IDH3G was added to Retinal disorders. Sources: Literature Q1_25_ promote_green tags were added to gene: IDH3G. Mode of inheritance for gene: IDH3G was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: IDH3G were set to 40119724 Phenotypes for gene: IDH3G were set to X-linked retinitis pigmentosa Review for gene: IDH3G was set to GREEN Added comment: PMID: 40119724 reports four hemizygous IDH3G single nucleotide variants (SNVs) in males with a X-linked retinitis pigmentosa. A further case was reported with a 25kb deletion, which encompassed the entire IDH3G gene, but also included PLXNB3 and SRPK3 genes. In all cases the IDH3G variant segregated with the disease, this was confirmed by sequencing in two of the families (figure 1 in PMID: 40119724). Functional studies showed that the IDH3G SNVs reduced expression of the IDH3G. Sources: Literature |
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