Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
White matter disorders and cerebral calcification - narrow panel v0.11 | PCDH12 |
Ellen McDonagh gene: PCDH12 was added gene: PCDH12 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683 Phenotypes for gene: PCDH12 were set to microcephaly; intellectual disability; perithalamic hyperechogenicity; hypothalamic abnormalities; periventricular hyperechogenicity; epilepsy; midbrain abnormalities |