NBN and juvenile polyposis syndrome: These were: compound heterozygous variants in BRCA1 gene, identified as disease causing for Anemia Fanconi like syndrome; homozygous variant in NBN gene, was disease-causing for Nijmegen Syndrome; homozygous variant in FANCC gene, was disease-causing for Fanconi Anemia group C; homozygous variant in FANCA, was disease-causing for Fanconi Anemia group A and heterozygous variant in BMPR1A gene was disease-causing for Juvenile polyposis syndrome.