| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia v2.144 | DYRK1A |
Sangavi Sivagnanasundram gene: DYRK1A was added gene: DYRK1A was added to Ataxia. Sources: Literature Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYRK1A were set to 40206408; 25944381 Phenotypes for gene: DYRK1A were set to DYRK1A-related intellectual disability syndrome, MONDO:0013578 Review for gene: DYRK1A was set to GREEN Added comment: DYRK1A syndrome is associated with intellectual disability, speech impairment, autism spectrum disorder, and microcephaly. Affected individuals often share characteristic facial features and may experience feeding difficulties, seizures, hypertonia, walking abnormalities, and foot anomalies. >5 unrelated individuals with monoallelic loss-of-function variants presented with ataxia/ataxic gait abnormalities. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||