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| Infantile nystagmus v1.10 | DAGLA | Achchuthan Shanmugasundram Classified gene: DAGLA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile nystagmus v1.10 | DAGLA | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile nystagmus v1.10 | DAGLA | Achchuthan Shanmugasundram Gene: dagla has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile nystagmus v1.9 | DAGLA | Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from developmental delay; ataxia; complex oculomotor abnormality (nystagmus) to congenital nystagmus, MONDO:0005712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile nystagmus v1.8 | DAGLA | Achchuthan Shanmugasundram Publications for gene: DAGLA were set to PMID: 35737950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile nystagmus v1.7 | DAGLA | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile nystagmus v1.6 | DAGLA | Achchuthan Shanmugasundram reviewed gene: DAGLA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 35737950; Phenotypes: congenital nystagmus, MONDO:0005712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile nystagmus v1.6 | DAGLA |
Irina Ziravecka gene: DAGLA was added gene: DAGLA was added to Infantile nystagmus. 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 (nystagmus) Mode of pathogenicity for gene: DAGLA was set to Other Review for gene: DAGLA was set to GREEN Added comment: 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 |
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