A variant has been detected on Chromosome 5 in LOC126807536, YIPF5 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:143543592-143544791| Yip1 domain family member 5). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Microcephaly, epilepsy, and diabetes syndrome 2