Seventh, updated information from the literature contributed to two findings: (1) KARS1 (Patient M)—reporting of a broader phenotype and publication of variants in other individuals improved interpretation; (2) COL4A2 (Patient G) was previously associated with porencephaly, but has recently been established to cause milder disease and exhibit variable penetrance13–15. The gene discussed is KARS1; the disease is porencephaly.