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Early onset or syndromic epilepsy v1.191 PCDH12 Rebecca Foulger Source Wessex and West Midlands GLH was added to PCDH12.
Early onset or syndromic epilepsy v1.190 PCDH12 Rebecca Foulger Source NHS GMS was added to PCDH12.
Early onset or syndromic epilepsy v1.189 PCDH12 Rebecca Foulger reviewed gene: PCDH12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PCDH12 Tracy Lester reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27164683; Phenotypes: Microcephaly, seizures, spasticity, and brain calcification, 251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Marked gene: PCDH12 as ready
Early onset or syndromic epilepsy v0.687 PCDH12 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).
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Gene: pcdh12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Classified gene: PCDH12 as Green List (high evidence)
Early onset or syndromic epilepsy v0.687 PCDH12 Sarah Leigh Gene: pcdh12 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.685 PCDH12 Sarah Leigh Gene: pcdh12 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.685 PCDH12 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
Early onset or syndromic epilepsy v0.684 PCDH12 Sarah Leigh Publications for gene: PCDH12 were set to 27164683
Early onset or syndromic epilepsy PCDH12 Zornitza Stark reviewed gene: PCDH12
Early onset or syndromic epilepsy PCDH12 Sarah Leigh Added gene to panel