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DDG2P

Gene: REST

Green List (high evidence)
REST (RE1 silencing transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000084093
EnsemblGeneIds (GRCh37): ENSG00000084093
OMIM: 600571, Gene2Phenotype
REST is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for REST-related gingival fibromatosis and sensorineural hearing loss are moderate, monoallelic_autosomal and undetermined (PMID:36509837). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03456.
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 REST-related gingival fibromatosis and sensorineural hearing loss is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:36509837).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
REST-related gingival fibromatosis and sensorineural hearing loss

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • REST-related gingival fibromatosis and sensorineural hearing loss
OMIM
600571
Clinvar variants
Variants in REST
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: REST was changed from Other to None

4 Oct 2023, 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: REST was added gene: REST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: REST were set to 36509837 Phenotypes for gene: REST were set to REST-related gingival fibromatosis and sensorineural hearing loss Mode of pathogenicity for gene: REST was set to Other