Gene symbol | MIM | Mode of inheritance | Fetal disease entity |
Genes involved in motor neuron development and survival | |||
SMN1 | 600354 | AR | SMA, FADS |
ERBB3 | 190151 | AR | LCCS2 |
GLE1 | 603371 | AR | LCCS1, LAAHD, non-lethal arthrogryposis |
PIP5K1C | 606102 | AR | LCCS3 |
UBE1 | 314370 | XL | XL-SMA |
ERGIC1 | NA | AD | AMC, neuropathic type |
TUBB2B | 612850 | AD | Cortical dysplasia, complex, with other brain malformations 7 |
Genes involved in combined central and peripheral nervous system defects | |||
ASCC1 and TRIP4 | 614215, 604501 | AR | Congenital bone fractures 1 and 2 |
CNTNAP1 | 602346 | AR | LCCS7 |
LGI4 | 608303 | AR | AMC, neurogenic with myelin defect |
Genes encoding components of the peripheral nervous system | |||
ADCY6 | 600294 | AR | LCCS8 |
ADGRG6 (GPR126) | 612243 | AR | LCCS9 |
ECEL1 | 605896 | AR | DA5D |
GLDN | 608603 | AR | LCCS11 (not always lethal) |
PIEZO2 | 613629 | AD, AR* | MWKS, DA3, DA5, DAIPT |
Genes encoding components of the neuromuscular junction | |||
CHRNA1 | 100690 | AR | Lethal multiple pterygium syndrome |
CHRND | 100720 | AR | AMC/CMS with fetal akinesia, FADS |
CHRNG | 100730 | AR | Lethal and EV MPS |
CNTN1 | 600016 | AR | CM with fetal akinesia |
DOK7 | 610285 | AR | FADS |
SYNE1 | 608441 | AR | AMC with fetal akinesia |
RAPSN | 601592 | AR | AMC, FADS |
MUSK | 601296 | AR | CMS9, FADS |
SLC18A3 | 600336 | AR | CMS21, FADS |
UNC50 | NA | AR | Lethal AMC |
Genes encoding adult skeletal muscle proteins | |||
ACTA1 | 102610 | AD | FADS |
BIN1 | 601248 | AR | CNM with fetal akinesia |
DMPK | 605377 | AD | FADS/DM |
FKRP | 606596 | AR | WWS with fetal akinesia |
LMNA | 150330 | AR | LGMD1B with fetal akinesia |
MTM1 | 300415 | XL | MTM with fetal akinesia |
NEB | 161650 | AR | FADS |
RYR1 | 180901 | AD, AR* | FADS, CRM with fetal akinesia, MPS |
TPM2 | 190990 | AD, AR* | EV MPS, DA1, DA2B, NEM 4, cap myopathy 2 |
TNNI2 | 191043 | AD | DA1, DA2B |
TNNT3 | 600692 | AD | DA1, DA2B |
CACNA1S | 114208 | AD, AR | Congenital myopathy, fetal akinesia |
DNM2 | 602378 | AD, AR* | LCCS5 |
FKTN | 607440 | AR | MDDGA4 |
SCN4A | 603967 | AD, AR* | Congenital myopathy, fetal hypokinesia |
VMA21 | 300913 | XL | XMEA |
Genes encoding fetally expressed myostructural proteins | |||
MYH3 | 160270 | AD | DA2A, DA2B, DA8, MPS |
MYH8 | 160741 | AD | CC-DA7, DA7 |
UTRN | 128240 | Arthrogryposis with fetal akinesia | |
KLHL40 | 615340 | AR | NEM8, fetal akinesia |
KLHL41 | 607701 | AR | NEM9, fetal akinesia |
LMOD3 | 616112 | AR | NEM10, fetal akinesia |
MYOD1 | 159970 | AR | Lethal fetal akinesia |
MYBPC1 | 160794 | AD, AR* | DA1B, LCCS4 |
TTN | 188840 | AD, AR* | Cardiomyopathy, muscular dystrophy, fetal akinesia |
ZBTB42 | 613915 | AR | LCCS6 |
Other genes | |||
FGFR2 | 176943 | AD | FADS |
GBE1 | 607839 | AR | GSD-IV/FADS |
DPAGT1 | 191350 | AR | Congenital disorder of glycosylation, type Ij |
Plain text indicates information from 2011 review.
Bold text indicates new information from 2018 review. Genes with asterisks manifest severe fetal akinesia phenotypes only with recessive inheritance.
AD, autosomal dominant; AMC, arthrogryposis multiplex congenita; AR, autosomal recessive; CC, Carney complex; CM, congenital myopathy; CMS, congenital myasthenic syndrome; CNM, centronuclear myopathy; CRM, core-rod myopathy; DA, distal arthrogryposis; DAIPT, arthrogryposis, distal, with impaired proprioception and touch; DM, myotonic dystrophy; EV, Escobar variant; FADS, fetal akinesia deformation sequence; GSD-IV, glycogen storage disease type IV; LAAHD, lethal arthrogryposis with anterior horn cell disease; LCCS, lethal congenital contracture syndrome; LGMD1B, limb-girdle muscular dystrophy type 1B; MDDG, muscular dystrophy-dystroglycanopathy; MPS, multiple pterygium syndrome; MTM, myotubular myopathy; MWKS, Marden-Walker syndrome; NA, not available; NEM, nemaline myopathy; SMA, spinal muscular atrophy; WWS, Walker-Warburg syndrome; XL, X linked; XMEA, X linked myopathy with excessive autophagy.