Hereditary ataxia

Gene: DAGLA

Green List (high evidence)

Comment on list classification: There are eight unrelated cases associating monoallelic variants in DAGLA with ataxia. Hence, this gene can be rated Green.

Created: 25 Jul 2023, 1:53 p.m. | Last Modified: 25 Jul 2023, 1:53 p.m.

Panel Version: 1.330

As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. All nine children had ataxia and the age of these children ranged between 4 and 15 years of age. In addition, the functional data suggests potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect (PMID:35737950).

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.

Created: 25 Jul 2023, 1:52 p.m. | Last Modified: 25 Jul 2023, 3:44 p.m.

Panel Version: 1.330

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ataxia, HP:0001251

Publications

• 35737950

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Green List (high evidence)

PMID: 35737950 - nine children from eight families with heterozygous, de novo truncating variants in the last exon of DAGLA with a neuro-ocular phenotype.
Sources: Literature

Created: 17 Jul 2023, 6:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
developmental delay; ataxia; complex oculomotor abnormality

Publications

• PMID: 35737950

Mode of pathogenicity
Other