Patient #6, a 64‐year‐old male with decompensated cirrhosis (LSM 26.6 kPa), portal hypertension and diabetes, was identified to have a rare variant (NM_001283009: p.D1017E) in RTEL1 gene and a suggested diagnosis of RTEL1‐associated telomerase syndrome was done. The gene discussed is RTEL1; the disease is portal hypertension.