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Mendeliome v1.2235 RICTOR Bryony Thompson Marked gene: RICTOR as ready
Mendeliome v1.2235 RICTOR Bryony Thompson Gene: rictor has been classified as Green List (High Evidence).
Mendeliome v1.2235 RICTOR Bryony Thompson Classified gene: RICTOR as Green List (high evidence)
Mendeliome v1.2235 RICTOR Bryony Thompson Gene: rictor has been classified as Green List (High Evidence).
Mendeliome v1.2234 RICTOR Bryony Thompson gene: RICTOR was added
gene: RICTOR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RICTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RICTOR were set to 39738822
Phenotypes for gene: RICTOR were set to Neurodevelopmental disorder MONDO:0700092, RICTOR-related
Review for gene: RICTOR was set to GREEN
Added comment: 8 unrelated cases presenting with ID and/or developmental delay with de novo or heterozygous variants inherited from one affected parent, including three missense variants, four loss-of-function variants and one 3 kb deletion encompassing RICTOR. Possible gain of function and loss of function mechanism of disease.
Sources: Literature