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Intellectual disability

Gene: RAB3A

Amber List (moderate 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)

I don't know

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 neurodevelopmental disorder associated with variants towards the 3' end of the gene: (NM_002866.5) c.565G>T, p.(Glu189*) and c.628C>T, p.(Gln210*), included global developmental delay and learning disability (PMID: 40166812, table S4).

In addition, the authors also present supportive functional studies for the RAB3A variants.
Created: 23 Apr 2025, 5:16 p.m. | Last Modified: 12 May 2025, 10:29 a.m.
Panel Version: 9.21
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: 12 May 2025, 10:29 a.m.
Copied from panel: Hereditary ataxia with onset in adulthood v8.5, Ataxia and cerebellar anomalies - narrow panel v8.3, Hereditary ataxia v1.341

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.
Copied from panel: Hereditary ataxia with onset in adulthood v8.5, Ataxia and cerebellar anomalies - narrow panel v8.3, Hereditary ataxia v1.341

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Research
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

12 May 2025, Gel status: 2

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: RAB3A. Tag Q2_25_ NHS_review was removed from gene: RAB3A.

12 May 2025, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: RAB3A was added gene: RAB3A was added to Intellectual disability. Sources: Research,Expert Review Amber Q2_25_ promote_green, Q2_25_ NHS_review tags were added to gene: RAB3A. Mode of inheritance for gene: RAB3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB3A were set to 36928819; 40166812 Phenotypes for gene: RAB3A were set to RAB3A associated cerebellar ataxia; pyramidal features; neurodevelopmental delay Penetrance for gene: RAB3A were set to Complete