Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000767489 | SCV000898104 | pathogenic | Tubulinopathy | 2018-07-01 | criteria provided, single submitter | literature only | A variant that is classified as pathogenic has been identified in the TUBA1A gene in a 9 years old born individual of female sex. The c.320A>G, p.(His107Arg) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Mencarelli et al. J. Mol. Sci, 2017 PMID: 29109381. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); Cortical gyral simplification (HP:0009879); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures (HP:0002069) |