Ataxia and cerebellar anomalies - narrow panel
Gene: DAGLA
Comment on list classification: There are eight unrelated cases associating monoallelic variants in DAGLA with ataxia. Hence, this gene should be promoted to Green rating at the next major review.Created: 25 Jul 2023, 1:48 p.m. | Last Modified: 25 Jul 2023, 1:48 p.m.
Panel Version: 4.20
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.
Sources: LiteratureCreated: 25 Jul 2023, 1:44 p.m.
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
Gene: dagla has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: DAGLA.
Mode of pathogenicity for gene: DAGLA was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
gene: DAGLA was added gene: DAGLA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAGLA were set to 35737950 Phenotypes for gene: DAGLA were set to Ataxia, HP:0001251 Review for gene: DAGLA was set to GREEN