Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000767485 | SCV000898100 | 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 51 months old born individual of male sex. The c.175G>A, p.(Gly59Ser) variant has been reported as a variant of de novo origin. This variant and associated phenotype was previously reported by Romaniello et al. Eur Radiol, 2017 PMID: 28677066. HPO-standardized clinical features were: Hypoplasia of the corpus callosum (HP:0002079); no Abnormality of brainstem morphology (-HP:0002363); Dilated fourth ventricle (HP:0002198); no Congenital microcephaly (-HP:0011451); Other neurological symptoms (NA) |