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DDG2P

Gene: RAB34

Green List (high evidence)
RAB34 (RAB34, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000109113
EnsemblGeneIds (GRCh37): ENSG00000109113
OMIM: 610917, Gene2Phenotype
RAB34 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RAB34-related orofaciodigital syndrome are moderate, biallelic_autosomal and loss of function (PMIDs: 37384395, 37619988). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03529.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease RAB34-related orofaciodigital syndrome is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 37619988;37384395).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RAB34-related orofaciodigital syndrome; OMIM:620718.0; MONDO:0958230

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RAB34-related orofaciodigital syndrome
OMIM
610917
Clinvar variants
Variants in RAB34
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: RAB34 was changed from Other to None

26 Sep 2024, 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: RAB34 was added gene: RAB34 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to 37619988; 37384395 Phenotypes for gene: RAB34 were set to RAB34-related orofaciodigital syndrome Mode of pathogenicity for gene: RAB34 was set to Other