Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000767431 | SCV000898046 | 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 36 gestational week old fetal individual of female sex. The c.908T>G, p.(Val303Gly) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Lecourtois Acta_Neuropathol, 2010 PMID: 20376468. HPO-standardized clinical features were: Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Dilation of lateral ventricles, Dilated fourth ventricle (HP:0006956, HP:0002198); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252) |