Ataxia - paediatric

Gene: CACNA1A

I don't know

Four newborns, all presenting with hypotonia, mild facial dysmorphic features, encephalopathy, and seizures were born
from consanguineous parents. Testing was only performed on two of the newborns in the family. A novel homozygous nonsense c.2767C>T p.(Arg932*) variant in the exon 19 of the CACNA1A gene (NM_001127221.1). Segregation analysis showed that both parents were heterozygous carriers and they were diagnosed with EA2.

Created: 1 Nov 2021, 4:53 a.m. | Last Modified: 1 Nov 2021, 4:53 a.m.

Panel Version: 0.9572

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• PMID: 34267336

Green List (high evidence)

Comment on list classification: Ataxia can be caused by a triplet repeat expansion in this gene, which is not detectable with current WES/WGS technologies. However, SNVs have also been reported as disease-causing.

Created: 23 Apr 2020, 4:25 a.m. | Last Modified: 23 Apr 2020, 4:25 a.m.

Panel Version: 0.212

Onset of episodic ataxia usually in childhood or adolescence.
Sources: Expert list

Created: 16 Apr 2020, 10:50 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia, type 2 MIM#108500