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Mendeliome v1.2416 IDH3G Zornitza Stark Marked gene: IDH3G as ready
Mendeliome v1.2416 IDH3G Zornitza Stark Gene: idh3g has been classified as Green List (High Evidence).
Mendeliome v1.2416 IDH3G Zornitza Stark Classified gene: IDH3G as Green List (high evidence)
Mendeliome v1.2416 IDH3G Zornitza Stark Gene: idh3g has been classified as Green List (High Evidence).
Mendeliome v1.2413 IDH3G Sangavi Sivagnanasundram gene: IDH3G was added
gene: IDH3G was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IDH3G was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDH3G were set to 40119724
Phenotypes for gene: IDH3G were set to X-linked retinitis pigmentosa, MONDO:0019200
Review for gene: IDH3G was set to GREEN
Added comment: PMID: 40119724
5 unrelated male probands with retinal pigmentosa (RP) identifed with hemizygous variants in IDH3G and was shown to segregate with disease in some families.
Sources: Literature