Table 4

Candidate genes identified through gene disruption or TAD disruption

GeneOMIMPutative functionpLIPatientsPhenotype summaryGene classification
MAGI 602 625Guanylate kinase, cellular interaction1.00IL/1901ID, speech delay, cleft palateVUS
FAM19A1 617 495Cerebral chemokine0.86IL/1901ID, speech delay, cleft palateVUS
PPARGC1A 605 417Energy metabolism regulation1.00VJ/0601ID, speech delay, ASD, FDVUS
RBM27 Unknown1.00EB/0401ID, growth retardation, microcephaly, epilepsyVUS
TENM2 610 119Unknown1.00EB/0401ID, growth retardation, microcephaly, epilepsyVUS
CNTN4 607 280Contactin, CNS development1.00TS/1101ID, behavioural troubles, FDVUS
CELF2 602 538RNA splicing1.00TS/1101ID, behavioural troubles, FDVUS
CAMK1D 607 957Serine-threonine kinase0.99TS/1101ID, behavioural troubles, FDVUS
DCAF5 603 812Mitochondrial protein1.00AG/1003FD, clubfeet, Crohn’s diseaseVUS
UNC79 616 884Sodium channel subunit1.00EC/2302ID, psychiatric troubles, FDVUS
RBM26 -Unknown1.00BM/1603ID, FD CHD,VUS
SEMA6A 605 885CNS development1.00BM/1201ID, growth retardation, speech delayVUS
PKN2 602 549Unknown1.00MD/2203ID, absent speech, ASD, epilepsy, FDVUS
STXBP5L 609 381Exocytosis inhibition1.00CM/0103ID, epilepsyVUS
DDX24 606 181RNA helicase0.22OP/0701; EC/2302ID, behavioural troublesVUS
MDGA2 611 128Synaptic regulation0.99OL/2202; KT/1403ID, absent/delayed speechVUS
  • ASD, autistic spectrum disorder; CHD, congenital heart defect; CNS, central nervous system; FD, facial dysmorphism; ID, intellectual disability; pLI, probability of loss of function intolerance; TAD, topologically associated domain; VUS, variants of unknown significance.