Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000767494 | SCV000898109 | 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 25 gestational week old fetal individual of male sex. The c.302A>G, p.(Asn101Ser) 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); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252) |
MGZ Medical Genetics Center | RCV002290012 | SCV002579822 | likely pathogenic | Lissencephaly due to TUBA1A mutation | 2021-12-03 | criteria provided, single submitter | clinical testing |