From: Genotype-phenotype associations in microtia: a systematic review
Syndrome | Related Genes | n |
---|---|---|
TCS (n= 25) | TCOF1 | 24 |
SPATA7 | 1 | |
CFM (n= 9) | TCOF1 | 3 |
C1orf99 | 1 | |
NRP1 | 1 | |
STRA6 | 1 | |
CYP11A1 | 1 | |
MPI | 1 | |
EFTUD2 | 1 | |
EYA3 | 1 | |
PLA2G4A | 1 | |
ATP6V1E1 | 1 | |
BCL2L13 | 1 | |
BID | 1 | |
CECR1 | 1 | |
CECR2 | 1 | |
CECR4 | 1 | |
CECR5 | 1 | |
CECR6 | 1 | |
CECR7 | 1 | |
FLJ41941 | 1 | |
GAB4 | 1 | |
HSFY1P1 | 1 | |
IL17RA | 1 | |
MICAL3 | 1 | |
MIR3198 | 1 | |
MIR648 | 1 | |
PEX26 | 1 | |
SLC25A18 | 1 | |
TUBA8 e | 1 | |
USP18 | 1 | |
XKR3 | 1 | |
OAVS (n=6) | TCOF1 | 4 |
ATP6V1E1 | 1 | |
BCL2L13 | 1 | |
BID | 1 | |
CECR1 | 1 | |
CECR2 | 1 | |
CECR4 | 1 | |
CECR5 | 1 | |
CECR6 | 1 | |
CECR7 | 1 | |
FLJ41941 | 1 | |
GAB4 | 1 | |
HSFY1P1 | 1 | |
IL17RA | 1 | |
MICAL3 | 1 | |
MIR3198 | 1 | |
MIR648 | 1 | |
PEX26 | 1 | |
SLC25A18 | 1 | |
TUBA8 e | 1 | |
USP18 | 1 | |
XKR3 | 1 | |
STRA6 | 1 | |
CYP11A1 | 1 | |
MPI | 1 | |
BOR Syndrome (n= 3) | EYA1 | 1 |
EVEN-PLUS (n= 3) | HSPA9 | 3 |
Goldenhar Syndrome (n= 2) | EYA3 | 2 |
MDFM Syndrome (n= 2) | EFTUD2 | 2 |
MGS (n= 2) | DONSON | 1 |
CDTI | 1 | |
CES (n= 1) | ATP6V1E1 | 1 |
BCL2L13 | 1 | |
BID | 1 | |
CECR1 | 1 | |
CECR2 | 1 | |
CECR4 | 1 | |
CECR5 | 1 | |
CECR6 | 1 | |
CECR7 | 1 | |
FLJ41941 | 1 | |
GAB4 | 1 | |
HSFY1P1 | 1 | |
IL17RA | 1 | |
MICAL3 | 1 | |
MIR3198 | 1 | |
MIR648 | 1 | |
PEX26 | 1 | |
SLC25A18 | 1 | |
TUBA8 e | 1 | |
USP18 | 1 | |
XKR3 | 1 | |
CECR7 | 1 | |
FLJ41941 | 1 | |
GAB4 | 1 | |
HSFY1P1 | 1 | |
IL17RA | 1 | |
MICAL3 | 1 | |
MIR3198 | 1 | |
MIR648 | 1 | |
PEX26 | 1 | |
SLC25A18 | 1 | |
TUBA8 e | 1 | |
USP18 | 1 | |
XKR3 | 1 | |
15q24 deletion syndrome (n= 1) | STRA6 | 1 |
CYP11A1 | 1 | |
MPI | 1 | |
Frasser Syndrome (n= 1) | GRIP1 | 1 |
Kalmann Syndrome (n= 1) | FGFR1 | 1 |
Coffin-Siris Syndrome (n= 1) | ARID1A | 1 |