Table 1 Genes included in craniosynostosis-associated custom panel.
Gene | HGNC ID | Reference sequence number | Disorder (#OMIM) | Mode of inheritance | Inclusion support |
|---|---|---|---|---|---|
ALPL | 438 | NM_000478 | Different forms of hypophosphatasia | AR | Clinical evidence (OMIM, Pubmed) |
ALX1 | 1494 | NM_006982 | Frontonasal dysplasia 3 (613456) | AR | Clinical evidence (OMIM, Pubmed) |
ALX3 | 449 | NM_006492 | Frontonasal dysplasia 1 (136760) | AR | Clinical evidence (OMIM, Pubmed) |
ALX4 | 450 | NM_021926 | Frontonasal dysplasia 2 (613451), | AR | Clinical evidence (OMIM, Pubmed) |
Parietal foramina 2 (609597), | AD | ||||
{Craniosynostosis 5, susceptibility to} (615529) | AD | ||||
BMP4 | 1071 | NM_001202 | Craniofacial development | Literature review (Pubmed, MGI) | |
CYP26B1 | 20581 | NM_019885 | Craniosynostosis with radio humeral fusions and other skeletal and craniofacial anomalies (614416) | AR | Clinical evidence (OMIM, Pubmed) |
DHODH | 2867 | NM_001361 | Miller syndrome (263750) | AR | Clinical evidence (OMIM, Pubmed) |
DPH1 | 3003 | NM_001383 | Developmental delay with short stature, dysmorphic features, and sparse hair (616901) | AR | Clinical evidence (OMIM, Pubmed) |
EDN3 | 3178 | NM_207034 | Craniofacial development | Literature review (Pubmed) | |
EDNRB | 3180 | NM_000115 | Craniofacial development | AD, AR | Literature review (MGI, Pubmed) |
EFNA4 | 3224 | NM_005227 | Nonsyndromic coronal craniosynostosis | AD? | Literature review (OMIM, Pubmed) |
EFNB1 | 3226 | NM_004429 | Craniofrontonasal syndrome (304110) | XD | Clinical evidence (OMIM, Pubmed) |
EFTUD2 | 30858 | NM_004247 | Mandibulofacial dysostosis, Guion-Almeida type (603892) | AD | Clinical evidence (OMIM, Pubmed) |
ERF | 3444 | NM_006494 | Craniosynostosis 4 (600775) | AD | Clinical evidence (OMIM, Pubmed) |
ESCO2 | 27230 | NM_001017420 | Roberts syndrome (268300) | AR | Clinical evidence (OMIM, Pubmed) |
FGFR1 | 3688 | NM_023110 | Hartsfield syndrome (615465) | AD | Clinical evidence (OMIM, Pubmed) |
Jackson-Weiss syndrome (123150) | |||||
Osteoglophonic dysplasia (166250) | |||||
Pfeiffer syndrome (101600) | |||||
Trigonocephaly 1 (190440) | |||||
FGFR2 | 3689 | NM_000141 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (207410) | AD | Clinical evidence (OMIM, Pubmed) |
Apert syndrome (101200) | |||||
Beare-Stevenson cutis gyrata syndrome (123790) | |||||
Bent bone dysplasia syndrome (614592) | |||||
Craniofacial-skeletal-dermatologic dysplasia (101600) | |||||
Crouzon syndrome (123500) | |||||
Jackson-Weiss syndrome (123150) | |||||
LADD syndrome (149730) | |||||
Pfeiffer syndrome (101600) | |||||
Saethre-Chotzen syndrome (101400) | |||||
Scaphocephaly, maxillary retrusion, and mental retardation (609579) | |||||
FGFR3 | 3690 | NM_000142 | Achondroplasia (100800) Crouzon syndrome with acanthosis nigricans (612247) | AD | Clinical evidence (OMIM, Pubmed) |
Hypochondroplasia (146000) | |||||
LADD syndrome (149730) | |||||
Muenke syndrome (602849) | |||||
SADDAN (616482) | |||||
Thanatophoric dysplasia, type I (187600) | |||||
Thanatophoric dysplasia, type II (187601) | |||||
FIG4 | 16873 | NM_014845 | Yunis-Varon syndrome (216340) | AR | Clinical evidence (OMIM, Pubmed) |
FLNB | 3755 | NM_001457 | Larsen syndrome (150250) | AD | Clinical evidence (OMIM, Pubmed) |
FREM1 | 23399 | NM_144966 | Trigonocephaly 2 (614485) | AD | Clinical evidence (OMIM, Pubmed) |
GDF5 | 4220 | NM_000557 | Multiple synostoses syndrome (610017) | AD | Clinical evidence (OMIM, Pubmed) |
GLI3 | 4319 | NM_000168 | Greig cephalopolysyndactyly syndrome (175700) | AD | Clinical evidence (OMIM, Pubmed) |
IFT122 | 13556 | NM_052985 | Cranioectodermal dysplasia 1 (218330) | AR | Clinical evidence (OMIM, Pubmed) |
IFT140 | 29077 | NM_014714 | Short-rib thoracic dysplasia 9 with or without polydactyly (266920), | AR | Clinical evidence (OMIM, Pubmed) |
IFT43 | 29669 | NM_052873 | Cranioectodermal dysplasia 3 (614099) | AR | Clinical evidence (OMIM, Pubmed) |
IFT52 | 15901 | NM_001303458 | Short-rib thoracic dysplasia 16 with or without polydactyly (61702) | AR | Clinical evidence (OMIM, Pubmed) |
IHH | 5956 | NM_002181 | Copy number variations cause craniosynostosis Philadelphia type (185900) | AD | Clinical evidence (OMIM, Pubmed) |
IL11RA | 5967 | NM_001142784 | Craniosynostosis and dental anomalies (614188) | AR | Clinical evidence (OMIM, Pubmed) |
MASP1 | 6901 | NM_139125 | 3MC syndrome 1 (257920) | AR | Clinical evidence (OMIM, Pubmed) |
MEGF8 | 3233 | NM_001410 | Carpenter syndrome 2 (614976) | AR | Clinical evidence (OMIM, Pubmed) |
MITF | 7105 | NM_000248 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness syndrome (617306) | AR | Clinical evidence (OMIM, Pubmed) |
MSX2 | 7392 | NM_002449 | Craniosynostosis, Boston type (604757) | AD | Clinical evidence (OMIM, Pubmed) |
Parietal foramina 1 (168500) | |||||
NOG | 7866 | NM_005450 | Multiple synostoses syndrome (186500) | AD | Clinical evidence (OMIM, Pubmed) |
P4HB | 8548 | NM_000918 | Cole-Carpenter syndrome (112240) | AD | Clinical evidence (OMIM, Pubmed) |
PAX3 | 8617 | NM_181457 | Craniofacial-deafness-hand syndrome (122880) | AD | Clinical evidence (OMIM, Pubmed) |
POLR1C | 20194 | NM_203290 | Treacher-Collins syndrome 3 (248390) | AR | Clinical evidence (OMIM, Pubmed) |
POLR1D | 20422 | NM_015972 | Treacher-Collins syndrome 2 (613717) | AR/AD | Clinical evidence (OMIM, Pubmed) |
POR | 9208 | NM_000941 | Antley-Bixler syndrome (201750) | AR | Clinical evidence (OMIM, Pubmed) |
RAB23 | 14263 | NM_183227 | Carpenter syndrome 1 (201000) | AR | Clinical evidence (OMIM, Pubmed) |
RECQL4 | 9948 | NM_004260 | Baller-Gerold syndrome (218600), | AR | Clinical evidence (OMIM, Pubmed) |
Rothmund-Thomson syndrome (268400), | |||||
RAPADILINO syndrome (266280) | |||||
RSPRY1 | 29420 | NM_133368 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (616723) | AR | Clinical evidence (OMIM, Pubmed) |
RUNX2 | 10472 | NM_001024630 | Cleidocranial dysplasia (119600) | AD | Clinical evidence (OMIM, Pubmed) |
SF3B4 | 10771 | NM_005850 | Acrofacial dysostosis, Nager type (154400) | AD | Clinical evidence (OMIM, Pubmed) |
SIX2 | 10888 | NM_016932 | Frontonasal dysplasia, sagittal synostosis (n/a) | AD | Literature review (Pubmed) |
SKI | 10896 | NM_003036 | Shprintzen-Goldberg syndrome (182212) | AD | Clinical evidence (OMIM, Pubmed) |
SMAD6 | 6772 | NM_005585 | {Craniosynostosis 7, susceptibility to}(617439) | AD | Literature review (OMIM, Pubmed) |
SMURF1 | 16807 | NM_001199847 | Sporadic metopic craniosynostosis, craniofacial development | Literature review (Pubmed, MGI) | |
SOX10 | 11190 | NM_006941 | Craniofacial development | Literature review (Pubmed, MGI) | |
SPRY1 | 11269 | NM_001258038 | Craniofacial development | Literature review (Pubmed, MGI) | |
SPRY4 | 15533 | NM_030964 | Craniofacial development | Literature review (Pubmed, MGI) | |
TCF12 | 11623 | NM_207036 | Craniosynostosis 3 (615314) | AD | Clinical evidence (OMIM, Pubmed) |
TCOF1 | 11654 | NM_001135243 | Treacher-Collins syndrome 1 (154500) | AD | Clinical evidence (OMIM, Pubmed) |
TGFBR1 | 11772 | NM_004612 | Loeys-Dietz syndrome 1 (609192) | AD | Clinical evidence (OMIM, Pubmed) |
TGFBR2 | 11773 | NM_003242 | Loeys-Dietz syndrome 2 (610168) | AD | Clinical evidence (OMIM, Pubmed) |
TTR | 12405 | NM_000371 | Maxillonasal dysplasia, Binder type | ? | Clinical evidence (OMIM, Pubmed) |
TWIST1 | 12428 | NM_000474 | Craniosynostosis 1(123100) | AD | Clinical evidence (OMIM, Pubmed) |
Robinow-Sorauf syndrome (180750) | |||||
Saethre-Chotzen syndrome (181400) | |||||
WDR19 | 18340 | NM_025132 | Cranioectodermal dysplasia 4 (614378) | AR | Clinical evidence (OMIM, Pubmed) |
WDR35 | 29250 | NM_001006657 | Cranioectodermal dysplasia 2 (613610) | AR | Clinical evidence (OMIM, Pubmed) |
Short-rib thoracic dysplasia 7 with or without polydactyly (614091) | |||||
ZIC1 | 12872 | NM_003412 | Craniosynostosis 6 (616602) | AD | Clinical evidence (OMIM, Pubmed) |
