Table 2 Clinically significant variants identified in retrospective and prospective cohorts
Genea | Phenotype | Cohort | Genomic change (GRCh37/hg19) | cDNA change | Predicted protein change | Zygosity | In-lab classification |
|---|---|---|---|---|---|---|---|
TCF12 | Syndromic craniosynostosis | Retrospective | chr15:g.57555454C>A | c.1727C>A | p.(Ser576*) | Heterozygous | Pathogenic |
TCF12 | Not stated | Retrospective | chr15:g.57535749G>T | c.1114+1G>T | p.? | Heterozygous | Pathogenic |
TCF12 | Bicoronal | Retrospective | chr15:g.57574709C>A | c.2045C>A | p.(Ser682*) | Heterozygous | Pathogenic |
TCF12 | Bicoronal | Retrospective | chr15:g.57545652C>T | c.1453C>T | p.(Arg485*) | Heterozygous | Pathogenic |
TCF12 | Bicoronal | Retrospective | chr15:g.57565349G>T | c.1867G>T | p.(Glu623*) | Heterozygous | Pathogenic |
TCF12 | Suspected Crouzon syndrome | Retrospective | chr15:g.57554395_57554399del | c.1571_1575del | p.(Glu524Valfs*2) | Heterozygous | Pathogenic |
TCF12 | Unicoronal | Retrospective | chr15:g.57555366_57555369 | c.1642_1645del | p.(Glu548Argfs*14) | Heterozygous | Pathogenic |
TCF12 | Right coronal | Retrospective | chr15:g.57555342dup | c.1615dup | p.(Thr539Asnfs*7) | Heterozygous | Pathogenic |
TCF12 | Right coronal | Retrospective | chr15:g.57554363del | c.1540del | p.(Ser514Glnfs*5) | Heterozygous | Pathogenic |
TCF12 | Right coronal | Retrospective | chr15:g.57523442_57523443del | c.673_674del | p.(Phe225Leufs*11) | Heterozygous | Pathogenic |
TCF12 | Unicoronal, autism | Retrospective | chr15:g.57554312_57554313del | c.1490_1491del | p.(Ser497Cysfs*12) | Heterozygous | Pathogenic |
TCF12 | Unicoronal, query Saethre-Chotzen | Retrospective | chr15:g.57545652C>T | c.1453C>T | p.(Arg485*) | Heterozygous | Pathogenic |
TCF12 | Unicoronal, query Saethre-Chotzen | Retrospective | chr15:g.57565358C>T | c.1876C>T | p.(Arg626*) | Heterozygous | Pathogenic |
TCF12 | Right unicoronal | Retrospective | chr15:g.57526307_57526308del | c.1035+2_1035+3del | p.? | Heterozygous | Pathogenic |
TCF12 | Saethre-Chotzen | Retrospective | chr15:g.57524629G>A | c.825+1G>A | p.? | Heterozygous | Pathogenic |
TCF12 | Bicoronal | Retrospective | chr15:g.57554395_57554399del | c.1571_1575del | p.(Glu524Valfs*2) | Heterozygous | Pathogenic |
TCF12 | Bicoronal, query Muenke (sibling 1) | Retrospective | chr15:g.57524923dup | c.839dup | p.(His280Glnfs*58) | Heterozygous | Pathogenic |
TCF12 | Bicoronal, query Muenke (sibling 2) | Retrospective | chr15:g.57524923dup | c.839dup | p.(His280Glnfs*58) | Heterozygous | Pathogenic |
TCF12 | Bicoronal | Prospective | chr15:g.57545527dupT | c.1328dupT | p.(Pro445Thrfs*11) | Heterozygous | Pathogenic |
TCF12 | Unicoronal | Prospective | chr15:g.57554315dupT | c.1491dupT | p.(Val498Cysfs*12) | Heterozygous | Pathogenic |
TCF12 | Unicoronal, base of skull scoliosis | Prospective | chr15:g.57554407G>A | c.1582+1G>A | p.(?) | Heterozygous | Pathogenic |
TCF12 | Unicoronal | Prospective | chr15:g.57565358C>T | c.1876C>T | p.(Arg626*) | Heterozygous | Pathogenic |
EFNB1 | Coronal | Retrospective | chrX:g.68059834del | c.531del | p.(Thr178Profs*35) | Heterozygous | Pathogenic |
EFNB1 | Saethre-Chotzen, hypertelorism | Retrospective | chrX:g.68058691C>A | c.360C>A | p.(Asn120Lys) | Heterozygous | Likely pathogenic |
EFNB1 | Hypertelorism, shallow orbits | Retrospective | chrX:g.68058492C>T | c.161C>T | p.(Pro54Leu) | Heterozygous | Pathogenic |
EFNB1 | Right unicoronal | Retrospective | chrX:g.68058492C>T | c.161C>T | p.(Pro54Leu) | Heterozygous | Pathogenic |
EFNB1 | Craniosynostosis on fetal ultrasound | Retrospective | chrX:g.68058510T>C | c.179T>C | p.(Leu60Pro)b | Heterozygous | Pathogenic |
EFNB1 | Unicoronal | Retrospective | chrX:g.68049699C>G | c.80C>G | p.(Pro27Arg) | Heterozygous | Pathogenic |
EFNB1 | Bicoronal, hypertelorism | Prospective | chrX:g.68059572A>G | c.472A>G | p.(Met158Val)c | Heterozygous | Pathogenic |
EFNB1 | Multisutural craniosynostosis | Prospective | chrX:g.68059917_68059918delCT | c.614_615delCT | p.(Ser205*) | Heterozygous | Pathogenic |
ERF | Sagittal, developmental delay | Retrospective | chr19:g.42754641_42754650del | c.90_99del | p.(Trp30Cysfs*44) | Heterozygous | Pathogenic |
ERF | Bicoronal | Prospective | chr19:g.42754546C>T | c.194G>A | p.(Arg65Gln) | Heterozygous | Pathogenic |
ERF | Crouzon syndrome | Prospective | chr19:g.42753978C>G | c.373+1G>C | p.(?) | Heterozygous | Pathogenic |
ALX4 | Parieto-occipital skull defect | Retrospective | chr11:g.44331519del | c.94del | p.(Ser32Argfs*149) | Heterozygous | Pathogenic |
ALX4 | Bilateral parietal foramina, hypertelorism | Retrospective | chr11:g.44296963A>C | c.712T>G | p.(Tyr238Asp)b | Heterozygous | Pathogenic |
FGF10 | LADD syndrome | Retrospective | chr5:g.44310592del | c.366del | p.(Val123Serfs*10) | Heterozygous | Pathogenic |
FGF10 | LADD syndrome | Retrospective | chr5:g.44305291C>A | c.433G>T | p.(Glu145*) | Heterozygous | Pathogenic |
EFNA4 | Unicoronal | Retrospective | chr1:g.155039303G>A | c.211G>A | p.(Glu71Lys)b | Heterozygous | Likely pathogenic |
POR | Antley–Bixler syndrome | Retrospective | chr7:g.75614973T>A | c.1475T>A | p.(Val492Glu) | Heterozygous | Pathogenic |
POR | Antley–Bixler syndrome | Retrospective | chr7:g.75615298dup | c.1727dup | p.(Tyr576*) | Heterozygous | Pathogenic |
POR | Metopic | Prospective | chr7:g.75610860C>T | c.667C>T | p.(Arg223*) | Heterozygous | Likely pathogenic |
POR | Metopic, family history of craniosynostosis | Prospective | chr7:g.75610860C>T | c.667C>T | p.(Arg223*) | Heterozygous | Likely pathogenic |
IL11RA | Metopic, unicoronal | Retrospective | chr9:g.34659774G>T | c.829G>T | p.(Glu277*) | Heterozygous | Pathogenic |
