Ataxia and cerebellar anomalies - narrow panel

Gene: DAB1

Red List (low evidence)

As reviewed by Zornitza Stark, there is only one case reported with cerebellar ataxia and identified with biallelic DAB1 variants. Hence, this gene should remain red in this panel.

Note that repeat expansions in this gene have an established association with disease (MIM #615945) and it is caused by monoallelic inheritance.

Created: 30 Aug 2023, 10:42 a.m. | Last Modified: 30 Aug 2023, 10:44 a.m.

Panel Version: 4.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cerebellar ataxia, MONDO:0000437

Publications

• 33928188

Red List (low evidence)

Single individual reported with bi-allelic variants, note this is a distinct mechanism to the repeat expansion in this gene which is associated with disease.

WES trio analysis identified compound heterozygous DAB1 canonical splice variants in a child with epilepsy (onset 6 years), developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities. RT-PCR confirms that the first variant (c.307-2A>T) causes a in-frame deletion of 3 amino acids. The second variant (c.67+1G>T) is reported to causes an in-frame deletion of exon 4 (first coding exon) and loss of the ATG initiation site.

Created: 11 Oct 2021, 9:32 a.m. | Last Modified: 11 Oct 2021, 9:32 a.m.

Panel Version: 2.236

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia; Intellectual disability

Publications

• 33928188