Table 1.
Examples of DRTKs
| Gene family | Gene symbol | OMIM number | Developmental disease (OMIM number) | Inheritance | Suspected mechanism | Disease mutation and COSMIC mutation overlap (known drivers are indicated in bold)a |
|---|---|---|---|---|---|---|
| AXL | MERTK | 604 705 | Retinitis pigmentosa 38 (613 862) | AR | LOF | |
| DDR | DDR2 | 191 311 | Short limb-hand spondylometaepiphyseal dysplasia (271 665) | AR | LOF | E113K, R752C |
| EGFR | ERBB3 | 190 151 | Lethal congenital contractural syndrome 2 (607 598) | AR | LOF | |
| FGFR | FGFR1 | 136 350 | Hartsfield syndrome (615 465) | AD/AR | ? | |
| Hypogonadotrophic hypogonadism 2 (147 950) | AD | LOF | R250W, A343V, G703S, V795I | |||
| Trigoncephaly (190 440) | AD | ? | ||||
| Pfeiffer syndrome (101 600) | AD | GOF | ||||
| Osteoglophonic dysplasia (166 250) | AD | GOF | ||||
| FGFR2 | 176 943 | Antley–Bixler syndrome (207 410) | AD | ? | W290C | |
| Apert syndrome (101 200) | AD | GOF | S252W, P253R | |||
| Beare–Stevenson cutis gyrata syndrome (123 790) | AD | GOF | S372C, Y375C | |||
| Bent bone dysplasia syndrome (614 592) | AD | ? | ||||
| Crouzon syndrome (123 500) | AD | GOF | S267P, W290R, D549H, R678G | |||
| Jackson–Weiss syndrome (123 150) | AD | GOF | ||||
| LADD syndrome (149 730) | AD | LOF | A648T | |||
| Pfeiffer syndrome (101 600) | AD | GOF | W290C | |||
| FGFR3 | 134 934 | Achondroplasia (100 800) | AD | GOF | G380R | |
| Severe achondroplasia with developmental delay and acanthosis nigricans (187 600) | AD | GOF | K650M | |||
| Crouzon syndrome with acanthosis nigricans (612 247) | AD? | GOF | A391E | |||
| Hypochondroplasia (146 000) | AD | GOF | N540S, K650N, K650T, K650Q | |||
| LADD syndrome (149 730) | AD | LOF | ||||
| Muenke craniosynostosis (602 849) | AD | GOF | ||||
| Thanatophoric dysplasia I (187 600) | AD | GOF | R248C, S249C, G370C, S371C, Y373C, K650M | |||
| Thanatophoric dysplasia II (187 601) | AD | GOF | K650E | |||
| INSR | INSR | 147 670 | Donohue syndrome (246 200) | AR | LOF | R924 |
| Rabson–Mendenhall syndrome (262 190) | AR | LOF | ||||
| MUSK | MUSK | 601 296 | Myasthenic syndrome type 9 (616 325) | AR | LOF | V790M |
| Fetal akinesia deformation sequence (208 150) | AR | LOF | ||||
| PDGFR | KIT | 164 920 | Piebaldism (172 800) | AD | LOF | W557, F584L, G664R, R796G |
| PDGFRß | 173 410 | Infantile myofibromatosis (228 550) | AD | ? | ||
| RET | RET | 164 761 | Hirschsprung disease (142 623) | AD | LOF | R77C, V145G, V202M, R231H, T278N, R330Q, R330W, R360W, A373V, E480K, R844W, G894S, R912Q, E921K, M980T |
| Multiple endocrine neoplasia 2B (162 300) | AD | GOF | M918T | |||
| ROR | ROR2 | 602 337 | Brachydactyly type B1 (113 000) | AD | GOF | |
| Robinow syndrome (268 310) | AR | LOF | ||||
| TIE | TEK | 600 221 | Multiple cutaneous and mucosal venous malformations (600 195) | AD/somatic | GOF | R849W |
| TRK | NTRK1 | 191 315 | Insensitivity to pain, congenital, with anhidrosis (256 800) | AR | LOF | |
| VEGFR | FLT4 | 136 352 | Hereditary lymphedema type IA (153 100) | AD | LOF | G1024E, R1041Q, R1041W, R1114L, P1137L |