DDG2P
Gene: RAB5C

RAB5C (RAB5C, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000108774
EnsemblGeneIds (GRCh37): ENSG00000108774
OMIM: 604037, Gene2Phenotype
RAB5C is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RAB5C-related neurodevelopmental disorder are moderate, monoallelic_autosomal and dominant negative (PMID:37552066). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03780.
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
RAB5C-related neurodevelopmental disorder

Publications

37552066

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 Green

Phenotypes

RAB5C-related neurodevelopmental disorder

OMIM

604037

Clinvar variants

Variants in RAB5C

Penetrance

None

Publications

37552066

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RAB5C was added gene: RAB5C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB5C were set to 37552066 Phenotypes for gene: RAB5C were set to RAB5C-related neurodevelopmental disorder Mode of pathogenicity for gene: RAB5C was set to Other

DDG2P Gene: RAB5C