Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: IDH3G
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Retinitis pigmentosa 99, MIM# 301148
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: LiteratureCreated: 2 Apr 2025, 2:42 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked retinitis pigmentosa, MONDO:0019200
Publications
Phenotypes for gene: IDH3G were changed from X-linked retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa 99, MIM# 301148
Gene: idh3g has been classified as Green List (High Evidence).
Gene: idh3g has been classified as Green List (High Evidence).
gene: IDH3G was added gene: IDH3G was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. 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