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  2. Hereditary ataxia
  3. RAB3A

Hereditary ataxia

Gene: RAB3A

Green List (high evidence)
RAB3A (RAB3A, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000105649
EnsemblGeneIds (GRCh37): ENSG00000105649
OMIM: 179490, Gene2Phenotype
RAB3A is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Hengel et al (PMID: 40166812) report six heterozygous RAB3A variants which appear to be associated with a condition that includes cerebellar ataxia; pyramidal features; neurodevelopmental delay. Five of the variants were only seen in one family each, while (NM_002866.5) c.247C>T (p.Arg83Trp) was seen in 14 members from nine families. The age of onset of phenotypic features ranged from 3 months to adulthood. The authors also present supportive functional studies.
Created: 23 Apr 2025, 5:18 p.m. | Last Modified: 23 Apr 2025, 5:18 p.m.
Panel Version: 1.341
Comment on phenotypes: RAB3A variants have not yet been associated with a phenotype in OMIM
Created: 23 Apr 2025, 3:39 p.m. | Last Modified: 23 Apr 2025, 3:39 p.m.
Panel Version: 1.340
Created: 23 Apr 2025, 3:39 p.m.
Last Modified: 23 Apr 2025, 3:39 p.m.
Panel version: 1.341

Andrew Mumford (University of Bristol)

Green List (high evidence)

The association between monoallelic variants in RAB3A and cerebellar ataxia was discovered in large-scale gene association study (PMID 36928819).

This was replicated in an extended European case series of 18 affected individuals from 10 families and supported by structural modelling and functional analyses in cell line and Drosophila models. (PMID 40166812).

Sources: Research
Created: 7 Apr 2025, 9:38 a.m. | Last Modified: 7 Apr 2025, 9:43 a.m.
Panel Version: 1.338

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cerebellar ataxia; pyramidal features; neurodevelopmental delay

Publications

Created: 7 Apr 2025, 9:38 a.m.
Last Modified: 7 Apr 2025, 9:43 a.m.
Panel version: 1.338

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • RAB3A associated cerebellar ataxia
  • pyramidal features
  • neurodevelopmental delay
OMIM
179490
Clinvar variants
Variants in RAB3A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rab3a has been classified as Green List (High Evidence).

23 Apr 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rab3a has been classified as Amber List (Moderate Evidence).

23 Apr 2025, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RAB3A were changed from cerebellar ataxia; pyramidal features; neurodevelopmental delay to RAB3A associated cerebellar ataxia; pyramidal features; neurodevelopmental delay

23 Apr 2025, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RAB3A were set to PMID:36928819; 40166812

7 Apr 2025, Gel status: 0

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

Andrew Mumford (University of Bristol)

gene: RAB3A was added gene: RAB3A was added to Hereditary ataxia. Sources: Research Mode of inheritance for gene: RAB3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB3A were set to PMID:36928819; 40166812 Phenotypes for gene: RAB3A were set to cerebellar ataxia; pyramidal features; neurodevelopmental delay Penetrance for gene: RAB3A were set to Complete Review for gene: RAB3A was set to GREEN