Table 1.
Genes located in the deleted interval
| Gene Symbol | Gene | mRNA Accession | OMIM | Known Haploinsufficiency Phenotype |
|---|---|---|---|---|
| KRCC1 | lysine-rich coiled-coil 1 | NM_016618.1 | n.a. | Unknown |
| SMYD1 | SET and MYND domain containing 1 | NM_198274.3 | 606846 | Smyd1+/− mice reported to be normal |
| FABP1 | fatty acid binding protein 1 | NM_001443.2 | 134650 | Unknown |
| THNSL2 | threonine synthase-like 2 | NM_018271.4 | 611261 | Unknown |
| FOXI3 | forkhead box I3 | NM_001135649.1 | 612351 | FOXI3+/− dogs always ectodermal dysplasia and occasionally ear malformations; Foxi3+/− mice reported to be normal |
| TEX37 | testis expressed 37 | NM_152670.2 | n.a. | Unknown |
| EIF2AK3 | eukaryotic translation initiation factor 2-alpha kinase 3 | NM_004836.5 | 226980 | EIF2AK3+/− humans and mice reported to be normal |
| RPIA | ribose 5-phosphate isomerase A | NM_144563.2 | 608611 | RPIA+/− humans reported to be healthy |
| MIR4780 | microRNA 4780 | NR_039940.1 | n.a. | Unknown |