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DDG2P

Gene: RALA

Green List (high evidence)
RALA (RAS like proto-oncogene A)
EnsemblGeneIds (GRCh38): ENSG00000006451
EnsemblGeneIds (GRCh37): ENSG00000006451
OMIM: 179550, Gene2Phenotype
RALA 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 RALA-related neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:30500825). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02934.
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 RALA-related Neurodevelopmental Syndrome is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMID:30500825).
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
OMIM:619311.0; MONDO:0859142; RALA-related Neurodevelopmental Syndrome; RALA-related neurodevelopmental syndrome

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
  • RALA-related Neurodevelopmental Syndrome
OMIM
179550
Clinvar variants
Variants in RALA
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: RALA 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: RALA was added gene: RALA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RALA were set to 30500825 Phenotypes for gene: RALA were set to RALA-related Neurodevelopmental Syndrome Mode of pathogenicity for gene: RALA was set to Other