Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 3 truncating variants identified, one variant has been shown to be a founder in four consanguineous Palestinian Israeli families following haplotype analysis, however, functional studies demonstrate nonsense-mediated mRNA decay and likely a complete loss of function in the cells from one affected family member (PMID 27164683). The other two variants were found as compound heterozygotes in a Japanese patient with dyskinetic cerebral palsy and epilepsy (PMID 28804758).
Sarah Leigh Phenotypes for gene: PCDH12 were changed from intellectual disability; microcephaly; epilepsy; perithalamic hyperechogenicity; periventricular hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities to Microcephaly, seizures, spasticity, and brain calcification 251280