Summary of phenotypes and genotypes of KIF149 26 30 31
| Family | Individuals affected (n) | Consanguinity | CNS phenotype | Kidney phenotype | Prenatal lethal wGA | KIF14 sequence variant | Functional domain |
| Filges et al37 | 2 | – | Microcephaly, agenesis of occipital lobes, CC and vermis | BRA, RHD | 21+4; 18+5 | c.1750_1751del, c.1780A>T p.Glu584Ilefs*16, p.Arg594* | Motor domain |
| Moawia et al10 Family 1 | 3 | + | Microcephaly with simplified gyral pattern | – | – | c.263A>T p.Leu88*/ p.Gly58 Leu181del | PRC1 binding |
| Moawia et al10 Family 2 | 2 | + | Microcephaly with simplified gyral pattern | – | – | c.2480_2482delTTG p.Val827del | FHA domain |
| Moawia et al Family 3 | 3 | + | Microcephaly | – | – | c.4071G>A p.Gln1357=/ p.Leu1296Trpfs*46 | C-terminal tail |
| Moawia et al 10 Family 4 | 2 | – | Microcephaly, lissencephaly CC agenesis | Small kidneys, increased echogenicity | 24 | c.2545C>G, c.3662G>T p.His849Asp, p.Gly1221Val/ p.Gly1221 Lys1296delinsVal | FHA domain C-terminal tail |
| Makrythanasis et al 41 Family 1 | 2 | + | Intellectual disability | – | – | c.2522C>T p.Ser841Phe | FHA domain |
| Makrythanasis et al 41 Family 2 | 2 | + | Microcephaly, optic atrophy, ASD | – | – | c.246delT p.Asn83Ilefs*3 | PRC1 binding |
| Makrythanasis et al 41 Family 3 | 2 | + | Microlissen-cephaly frontal cerebral atrophy, partial agenesis of CC | – | – | c.1375G>A p.Gly459Arg | Motor domain |
| Makrythanasis et al 41 Family 4 | 2 | + | Microcephaly | – | 15; 17 | c.4432delA p.Ser1478fs | C-terminal tail |
| Reilly et al42 Family 1 | 1 | – | Microcephaly, CC agenesis, brainstem hypoplasia | Cystic RHD | 18 | c.35672?_4072+?del p.Arg1189Argfs*9 | C-terminal tail |
| Reilly et al42 Family 2 | 3 | – | Microcephaly, holoprosencephaly | BRA2, RHD1 | 33; 37+1; 18+3 | c.3910C>T, c.1090C>T p.Gln1304*, p.Arg364Cys | C-terminal tail Motor domain |
| Reilly et al42 Family 3 | 3 | – | Microcephaly, CC agenesis, brainstem hypoplasia | Cystic RHD | 24; 20+3; 18 | c.1367C>T, c.4138C>T p.Thr456Met, p.Gln1380* | C-terminal tail Motor domain |
| Reilly et al42 Family 4 | 4 | – | Microlissencephaly | Cystic RHD2, RHD1, BRA1 | 27+4; 17+4; 21+2; 23 | c.1792C>T p.Arg598* | Motor domain |
ASD, autism spectrum disorder; BRA, bilateral renal agenesis; CC, corpus callosum; CNS, central nervous system; FHA, forkhead associated; PRC1, protein regulating cytokinesis 1; RHD, renal hypodysplasia; wGA, weeks gestational age.