Hereditary ataxia
Gene: DAGLA
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
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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: LiteratureCreated: 17 Jul 2023, 6:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
developmental delay; ataxia; complex oculomotor abnormality
Publications
Mode of pathogenicity
Other
Gene: dagla has been classified as Green List (High Evidence).
Phenotypes for gene: DAGLA were changed from developmental delay; ataxia; complex oculomotor abnormality to Ataxia, HP:0001251
Mode of pathogenicity for gene: DAGLA was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for gene: DAGLA were set to PMID: 35737950
gene: DAGLA was added gene: DAGLA was added to Hereditary ataxia. Sources: Literature Mode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAGLA were set to PMID: 35737950 Phenotypes for gene: DAGLA were set to developmental delay; ataxia; complex oculomotor abnormality Mode of pathogenicity for gene: DAGLA was set to Other Review for gene: DAGLA was set to GREEN