Ataxia - paediatric
Gene: CACNA1A
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
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 listCreated: 16 Apr 2020, 10:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 2 MIM#108500
Gene: cacna1a has been classified as Green List (High Evidence).
Tag STR tag was added to gene: CACNA1A.
Gene: cacna1a has been classified as Green List (High Evidence).
Gene: cacna1a has been classified as Green List (High Evidence).
gene: CACNA1A was added gene: CACNA1A was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 MIM#108500 Review for gene: CACNA1A was set to GREEN