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  3. RICTOR
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DDG2P

Gene: RICTOR

Red List (low evidence)
RICTOR (RPTOR independent companion of MTOR complex 2)
EnsemblGeneIds (GRCh38): ENSG00000164327
EnsemblGeneIds (GRCh37): ENSG00000164327
OMIM: 609022, Gene2Phenotype
RICTOR is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RICTOR-related neurodevelopmental disorder are limited, monoallelic_autosomal and gain of function (PMID:39738822). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03914.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
RICTOR-related neurodevelopmental disorder

Publications

Mode of pathogenicity
Other

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • RICTOR-related neurodevelopmental disorder
OMIM
609022
Clinvar variants
Variants in RICTOR
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RICTOR was added gene: RICTOR was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: RICTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RICTOR were set to 39738822 Phenotypes for gene: RICTOR were set to RICTOR-related neurodevelopmental disorder Mode of pathogenicity for gene: RICTOR was set to Other