Infantile nystagmus

Gene: DAGLA

Green List (high evidence)

Comment on list classification: There are more than three unrelated cases with infantile nystagmus and hence this gene can be promoted to green in this panel.

Created: 25 Jul 2023, 3:51 p.m. | Last Modified: 25 Jul 2023, 3:51 p.m.

Panel Version: 1.10

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. Seven of nine children had nystagmus, of which four had nystagmus as their first symptom and the age of onset ranged from birth to nine months. 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, 3:49 p.m. | Last Modified: 25 Jul 2023, 3:49 p.m.

Panel Version: 1.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital nystagmus, MONDO:0005712

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, 6:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
developmental delay; ataxia; complex oculomotor abnormality (nystagmus)

Publications

• PMID: 35737950

Mode of pathogenicity
Other