Although germline ERBB3 variants have been reported previously (47), pathogenic variants have been reported extremely rarely—viz., a germline ERBB3 mutation (c.4009G > A;p.Ala1337Thr), affecting the C-terminus of the protein, was reported in association with familial erythroleukemia (48), and a homozygous loss-of-function mutation in ERBB3 was associated with lethal congenital contractural syndrome type 2 (OMIM 607598) in two Israeli-Bedouin families (49). Here, ERBB3 is linked to erythroleukemia, familial, susceptibility to.