Ataxia and cerebellar anomalies - narrow panel

Gene: RAB3A

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, 5:16 p.m. | Last Modified: 23 Apr 2025, 5:16 p.m.

Panel Version: 7.30

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

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

• PMID:36928819
• 40166812