Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000767497 | SCV000898112 | 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 24.5 gestational week old fetal individual of female sex. The c.473C>T, p.(Ser158Leu) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Bahi-Buisson et al. Brain, 2014 PMID: 24860126. HPO-standardized clinical features were: Agenesis of the corpus callosum (HP:0001274); Polymicrogyria (HP:0002126); Dysgenesis of the cerebellar vermis (HP:0002195); Cerebellar dysplasia (HP:0007033); Dysgenesis of the hippocampus (HP:0025101); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451) |