DDG2P
Gene: RAB1A

RAB1A (RAB1A, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000138069
EnsemblGeneIds (GRCh37): ENSG00000138069
OMIM: 179508, Gene2Phenotype
RAB1A is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease RAB1A-related neurodevelopmental disorder with speech and motor delay and spasticity is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 37924809;38091987).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

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

Phenotypes
RAB1A-related neurodevelopmental disorder with speech and motor delay and spasticity

Publications

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 5.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

RAB1A-related neurodevelopmental disorder with speech and motor delay and spasticity

Tags

gene-checked

OMIM

179508

Clinvar variants

Variants in RAB1A

Penetrance

None

Publications

Panels with this gene

DDG2P

History Filter Activity

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: RAB1A.

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RAB1A was added gene: RAB1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RAB1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB1A were set to 37924809; 38091987 Phenotypes for gene: RAB1A were set to RAB1A-related neurodevelopmental disorder with speech and motor delay and spasticity

DDG2P Gene: RAB1A