Table 2.
A list of the 16 genes deleted with a known phenotype on chromosome 14 with the Online Mendelian Inheritance of Man (OMIM) annotation. We believe that CKBE, HFM, MCOP1, and SMALED (noted by asterisk) may be significant in the previously described 14q32 deletion syndrome.
| Gene | OMIM annotation | Gene name |
|---|---|---|
| PHOBS | 608251 | Phobia, specific |
| IBGC1 | 213600 | Basal ganglia calcification, idiopathic (Fahr's disease) |
| MNG1 | 138800 | Multinodular goiter-1 |
| CTAA1 | 115650 | Catarct, anterior polar 1 |
| CHDS4 | 608318 | Coronary heart disease, susceptibility to, 4 |
| CKBE* | 123270 | Creatine kinase, ectopic expression |
| GEVQ1 | 608875 | Gene expression, variation in, quantitative trait locus on chr. 14 |
| HFM* | 164210 | Hemifacial microsomia |
| MCOP1* | 251600 | Microphthalmia, isolated 1 |
| SMALED* | 158600 | Spinal muscular atrophy, lower extremity, autosomal dominant |
| IGHR | 144120 | Immunoglobulin heavy chain regulator |
| XRCC3 | 600675 | X-ray repair, complementing defective, repair in Chinese hamster cells-3 |
| INF2 | 610982 | Inverted forming 2 |
| AKT1 | 164730 | Murine thymoma viral (v-akt) oncogene homolog-1 |
| IGHG2 | 147110 | Constant region of heavy chain of IgG2 |
| IGHM | 147020 | Constant region of heavy chain of IgM |