HHMS diagnoses made include Fanconi Anemia due to homozygous intronic PVs in FANCA (Patient 2, NM_000135.4: c.283+1G>T), TBD secondary to a heterozygous deletion of TERC and exon 1 of the MECOM gene (Patient 6, transcript 4), GATA2 deficiency syndrome due to a heterozygous intronic PV in GATA2 (Patient 19, NM_032638.5: c.1017+572C>T), and a heterozygous PV in RUNX1 (Patient 26, NM_001754.5: c.553C>T; p.Gln185*). The gene discussed is FANCA; the disease is Fanconi anemia.