Peripheral neuropathy: INF2 {5 pointsa, including from row below} (p.Leu480Gln: #4, CC: myalgia, pruritus, GERD, constipation, urinary incontinence); Multiple genes including PMP22 {3 points} (chr17p12p12×1 [14,186,500-15,584,000], 1.4 Mb, inheritance unknown: #75); SH3TC2 {3 points} (homozygous deletiond: #9, CC: CMT neuropathy and IBS); GLA {3 points} (p.Ala143Thr: #8, CC: peripheral/enteric neuropathy with an emphasis on pain); KIF1B {7 points} (p.Val1600Met: #22, CC: longstanding ankle braces for pain; p.Thr827Ile: #38; p.Ser1327Arg & p.Gly545Arg: #43; p.Val1600Met: #79). The gene discussed is INF2; the disease is peripheral neuropathy.