Table 3.
List of genes in the deletion region.
| Gene Symbol | MIM Number for Genes | Phenotype | Inheritance | Phenotypes observed in this patient |
|---|---|---|---|---|
| UNC5D | 616466 | – | – | – |
| KCNU1 | 615215 | – | – | – |
| ZNF703 | 617045 | – | – | – |
| ERLIN2 | 611605 | Spastic paraplegia 18, autosomal recessive | AR | – |
| PLPBP | 604436 | Epilepsy, early-onset, vitamin B6-dependent | AR | – |
| ADGRA2 | 606823 | – | – | – |
| BRF2 | 607013 | – | – | – |
| RAB11FIP1 | 608737 | – | – | – |
| GOT1L1 | – | – | – | – |
| ENSG00000285880 | – | – | – | – |
| ADRB3 | 109691 | Obesity, susceptibility to | AD, AR, Mu | Diabetes? |
| EIF4EBP1 | 602223 | – | – | – |
| ASH2L | 604782 | – | – | – |
| STAR | 600617 | Lipoid adrenal hyperplasia | AR | – |
| LSM1 | 607281 | – | – | – |
| BAG4 | 603884 | – | – | – |
| DDHD2 | 615033 | Spastic paraplegia 54, autosomal recessive | AR | – |
| PLPP5 | 610626 | – | – | – |
| NSD3 | 607083 | – | – | – |
| LETM2 | – | – | – | – |
| FGFR1 | 136350 | Encephalocraniocutaneous lipomatosis, somatic mosaic | – | – |
| Hartsfield syndrome | AD | Malformation of the feet | ||
| Hypogonadotropic hypogonadism 2 with or without anosmia | AD | Hypogonadotropic hypogonadism | ||
| Jackson-Weiss syndrome | AD | Broad and foreshortened halluces | ||
| Osteoglophonic dysplasia | AD | – | ||
| Pfeiffer syndrome | AD | Facial asymmetry, micrognathia, malformed ear, dental dysplasia, and a high-arched palate | ||
| Trigonocephaly 1 | AD | – | ||
| C8orf86 | – | – | – | – |
| TACC1 | 605301 | – | – | – |
| PLEKHA2 | 607773 | – | – | – |
| HTRA4 | 610700 | – | – | – |
| TM2D2 | 610081 | – | – | – |
| ADAM9 | 602713 | Cone-rod dystrophy 9 | AR | – |
| ADAM32 | 618602 | – | – | – |
| ADAM18 | 619495 | – | – | – |
| ADAM2 | 601533 | – | – | – |
| IDO1 | 147435 | – | – | – |
| IDO2 | 612129 | – | – | – |
| TCIM | 607702 | – | – | – |
| ZMAT4 | – | – | – | – |
| SFRP1 | 604156 | – | – | – |
| GOLGA7 | 609453 | – | – | – |
| GINS4 | 610611 | – | – | – |
| GPAT4 | 608143 | – | – | – |
| NKX6-3 | 610772 | – | – | – |
| ANK1 | 612641 | Spherocytosis, type 1 | AD, AR | Spherocytosis anemia, and splenomegaly |
| KAT6A | 601408 | Arboleda-Tham syndrome | AD | Speech delay |
| AP3M2 | 610469 | – | – | – |
| PLAT | 173370 | Hyperfibrinolysis, familial, due to increased release of PLAT | – | – |
| Thrombophilia, familial, due to decreased release of PLAT | – | – | ||
| IKBKB | 603258 | Immunodeficiency 15A | AD | – |
| Immunodeficiency 15B | AR | – | ||
| POLB | 174760 | – | – | – |
| DKK4 | 605417 | – | – | – |
| VDAC3 | 610029 | – | – | – |
| SLC20A2 | 158378 | Basal ganglia calcification, idiopathic, 1 | AD | Brain calcification |
| SMIM19 | – | – | – | – |
AD, autosomal dominant; AR, autosomal recessive; MIM, Mendelian Inheritance in Man.