Table 1.
Summary of the Genes Listed in the Deletion Region
| Gene Symbol (MIM Number for Genes) | Description | Position in Chromosome 13 | Phenotype (MIM Number for Phenotype, Inheritance) |
|---|---|---|---|
| IRS2 (600797) | Insulin receptor substrate 2 | 110,406,184–110,438,914 | Diabetes mellitus, noninsulin-dependent (125853, AD) |
| COL4A1 (120130) | Collagen, type IV, α 1 | 110,801,310–110,959,496 | Retinal arteries, tortuosity of (180000, AD) |
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (611773, AD) | |||
| Brain small-vessel disease with or without ocular anomalies (607595, AD) | |||
| Porencephaly 1 (175780, AD) | |||
| COL4A2 (120090) | Collagen, type IV, α 2 | 110,959,631–111,165,373 | Porencephaly 2 (614483, AD) |
| Hemorrhage, intracerebral, susceptibility to (614519) | |||
| RAB20 | RAB20, member RAS oncogene family | 111,175,413–111,214,071 | |
| CARKD (615910) | Carbohydrate kinase domain containing | 111,267,931–111,292,342 | |
| CARS2 (612800) | Cysteinyl-tRNA synthetase 2, mitochondrial (putative) | 111,293,757–111,358,480 | Combined oxidative phosphorylation deficiency 27 (616672, AR) |
| DJ031140 | cDNA clone IMAGE:4905026 | 111,363,576–111,365,814 | |
| ING1 (601566) | Inhibitor of growth family, member 1 | 111,367,359–111,373,421 | Squamous cell carcinoma, head and neck, somatic (275355) |
| ANKRD10 | Ankyrin repeat domain 10 | 111,530,887–111,567,416 | |
| ARHGEF7 (605477) | Rho guanine nucleotide exchange factor (GEF) 7 | 111,767,624–111,947,542 | |
| TEX29 | Testis expressed 29 | 111,973,015–111,996,594 | |
| SOX1 (602148) | SRY (sex-determining region Y)-box 1 | 112,721,913–112,726,020 | |
| AK055145 | cDNA FLJ30583 fis, clone BRAWH2007406 | 112,762,364–112,764,886 | |
| SPACA7 | Sperm acrosome associated 7 | 113,030,651–113,089,009 | |
| TUBGCP3 | Tubulin, γ complex associated protein 3 | 113,139,328–113,242,481 | |
| C13orf35 | Chromosome 13 open reading frame 35 | 113,301,358–113,338,811 | |
| ATP11A | ATPase, class VI, type 11A | 113,344,643–113,541,482 | |
| MCF2L-AS1 | MCF2L antisense RNA 1 | 113,621,798–113,622,952 | |
| MCF2L (609499) | MCF.2 cell line derived transforming sequence-like | 113,623,535–113,754,053 | |
| F7 (613878) | Coagulation factor VII (serum prothrombin conversion accelerator) | 113,760,102–113,774,995 | Factor VII deficiency (227500) |
| Myocardial infarction, decreased susceptibility to (608446, AR) | |||
| F10 (613872) | Coagulation factor X | 113,777,113–113,803,843 | Factor X deficiency (227600, AR) |
| PROZ (176895) | Protein Z, vitamin K–dependent plasma glycoprotein | 113,812,968–113,826,698 | Protein Z deficiency (614024) |
| PCID2 | PCI domain containing 2 | 113,831,853–113,863,029 | |
| CUL4A (603137) | Cullin 4A | 113,863,931–113,919,392 | |
| LAMP1 (153330) | Lysosomal-associated membrane protein 1 (LAMP1) | 113,951,469–113,977,741 | |
| GRTP1 | Growth hormone–regulated TBC protein 1 | 113,978,505–114,018,463 | |
| ADPRHL1 (610620) | ADP-ribosylhydrolase like 1 | 114,076,260–114,107,839 | |
| DCUN1D2 | DCN1, defective in cullin neddylation 1, domain containing 2 (Saccharomyces cerevisiae) | 114,110,134–114,145,023 | |
| TMCO3 (617134) | Transmembrane and coiled-coil domains 3 | 114,145,308–114,204,544 | |
| TFDP1 (189902) | Transcription factor Dp-1 | 114,239,056–114,295,788 | |
| ATP4B (137217) | ATPase, H+/K+ exchanging, β polypeptide | 114,303,122–114,312,513 | |
| GRK1 (180381) | G protein-coupled receptor kinase 1 | 114,321,597–114,438,637 | Oguchi disease-2 (613411) |
| LINC00552 | Long intergenic nonprotein coding RNA 552 | 114,451,484–114,454,062 | |
| TMEM255B | Transmembrane protein 255B | 114,462,216–114,514,899 | |
| GAS6 (600441) | Growth arrest–specific 6 | 114,523,522–114,567,046 | |
| FLJ41484 | cDNA FLJ35543 fis, clone SPLEN2002957 | 114,545,293–114,548,541 | |
| RASA3 (605182) | RAS p21 protein activator 3 | 114,747,194–114,898,095 | |
| CDC16 (603461) | Cell division cycle 16 | 115,000,362–115,038,150 | |
| UPF3A (605530) | UPF3 regulator of nonsense transcripts homolog A (yeast) | 115,047,059–115,071,291 | |
| CHAMP1 (616327) | Chromosome alignment maintaining phosphoprotein 1 | 115,079,965–115,092,803 | Mental retardation, autosomal dominant 40 (616579, AD) |
This table was created based on information from GRCh37/hg19 (https://genome-asia.ucsc.edu/index.html).
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; MIM, Mendelian Inheritance in Man.