Given a variant located on Chromosome 5 and affecting LOC126807536, YIPF5 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:143543592-143544791| Yip1 domain family member 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Microcephaly, epilepsy, and diabetes syndrome 2