Ataxia and cerebellar anomalies - narrow panel
Gene: DAB1
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
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
Phenotypes for gene: DAB1 were changed from Spinocerebellar ataxia 37 to cerebellar ataxia, MONDO:0000437
Mode of inheritance for gene: DAB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Rebecca Foulger: Comment on list classification
gene: DAB1 was added gene: DAB1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAB1 were set to 28686858 Phenotypes for gene: DAB1 were set to Spinocerebellar ataxia 37 Mode of pathogenicity for gene: DAB1 was set to Other - please provide details in the comments