Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000767416 | SCV000898031 | 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 7 years old born individual of male sex. The c.998C>T, p.(Ala333Val) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Cushion et al. Brain, 2013 PMID: 23361065. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); Polymicrogyria (HP:0002126); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Dilation of lateral ventricles, Dilated fourth ventricle (HP:0006956, HP:0002198); Abnormality of the internal capsule (HP:0012502); no Microcephaly (-HP:0000252); no Seizures (-HP:0001250) |