Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000767433 | SCV000898048 | 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 23 gestational week old fetal individual of male sex. The c.978A>C, p.(Lys326Asn) 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); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the pons (HP:0012110); Cerebellar dysplasia (HP:0007033); no Abnormal morphology of the hippocampus (HP:0025100); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252) |