| Human | H19 | 283120 | H19, imprinted maternally expressed transcript (non-protein coding) | Caused by duplication or deletion at 11p15.5 |
| Human | EHMT1 | 79813 | euchromatic histone-lysine N-methyltransferase 1 | Many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of EHMT1 ({607001}) |
| Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | Caused by duplication or deletion at 11p15.5 |
| Human | KCNQ1OT1 | 10984 | KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) | Caused by duplication or deletion at 11p15.5 |
| Human | RAI1 | 10743 | retinoic acid induced 1 | Caused by an interstitial deletion of 17p11.2 |
| Human | PREPL | 9581 | prolyl endopeptidase-like | HCS is a contiguous gene syndrome caused by 23.8-75.5kb deletion containing the SLC3A1 ({104614}) and PREPL ({609557}) genes 2p21del syndrome is a contiguous gene syndrome caused by 179kb deletion containing the SLC3A1 ({104614}), PREPL ({609557}), PPM1B ({603770}), and C2orf34 ({609559}) genes |
| Human | GTF2IRD1 | 9569 | GTF2I repeat domain containing 1 | Hemizygous deletion at 7q11.23 |
| Human | YWHAE | 7531 | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide | Cytogenetic deletion of chromosome 17p13.3 |
| Human | WHSC1 | 7468 | Wolf-Hirschhorn syndrome candidate 1 | Due to partial deletion of 4p Size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions Partial deletion of short arm of chromosome 4 (4p-) FISH can be used to detect deletions of 4p16.3, the critical region for the phenotype de novo deletions in 8% of patients (preferentially paternally derived) |
| Human | VLDLR | 7436 | very low density lipoprotein receptor | Caused by deletion of the very low density lipoprotein receptor (VLDLR, {192977.0001}) |
| Human | UBE3A | 7337 | ubiquitin protein ligase E3A | Hypopigmentation (seen only in deletion cases) 70% due to de novo maternal deletion of 15q11.2-q13 |
| Human | TRPS1 | 7227 | trichorhinophalangeal syndrome I | TRP2 (Langer-Giedion syndrome, {150230}) is a microdeletion syndrome involving deletions of both the TRPS1 ({604386}) and EXT1 ({608177}) genes TRPS2 (Langer-Giedion syndrome, {150230}) is a microdeletion syndrome involving deletions of both TRPS1 ({190350}) and EXT1 ({608177}) genes |
| Human | THRB | 7068 | thyroid hormone receptor, beta | Thyroid hormone receptor-beta gene (THR1) deletion |
| Human | TBX1 | 6899 | T-box 1 | A contiguous gene syndrome involving deletion of the DiGeorge syndrome chromosome region (DGCR) involving mutations in TUP-like enhancer of split 1 (TUPLE1, {600237}) and DiGeorge critical region gene 2 (DGCR2, {600594}) Usually sporadic disorder resulting from de novo 22q11.2 deletion 22q11.2 deletion can present with a variety of phenotypes including velocardiofacial syndrome ({192430}) 85-90% DGS patients have deletion of 22q11.2 |
| Human | SMN1 | 6606 | survival of motor neuron 1, telomeric | Deletions in NAIP gene ({600355}) found in 18% of SMAII patients Deletions in NAIP gene ({600355}) found in 18% of SMA2 patients |
| Human | SLC3A1 | 6519 | solute carrier family 3 (amino acid transporter heavy chain), member 1 | HCS is a contiguous gene syndrome caused by 23.8-75.5kb deletion containing the SLC3A1 ({104614}) and PREPL ({609557}) genes 2p21del syndrome is a contiguous gene syndrome caused by 179kb deletion containing the SLC3A1 ({104614}), PREPL ({609557}), PPM1B ({603770}), and C2orf34 ({609559}) genes |
| Human | RP2 | 6102 | retinitis pigmentosa 2 (X-linked recessive) | Caused by contiguous gene deletion on chromosome Xp11.3, including the RP2 gene ({312600}) |
| Human | PAFAH1B1 | 5048 | platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) | Cytogenetic deletion of chromosome 17p13.3 |
| Human | NPHP1 | 4867 | nephronophthisis 1 (juvenile) | Caused by deletion in the nephrocystin gene (NPHP1, {607100.0005}) |
| Human | MECP2 | 4204 | methyl CpG binding protein 2 (Rett syndrome) | Hypopigmentation (seen only in deletion cases) 70% due to de novo maternal deletion of 15q11.2-q13 |
| Human | GTF2I | 2969 | general transcription factor IIi | Hemizygous deletion at 7q11.23 |
| Human | GLI3 | 2737 | GLI family zinc finger 3 | Translocation or deletions involving 7p13 (severe case reports) |
| Human | FMR1 | 2332 | fragile X mental retardation 1 | |
| Human | EP300 | 2033 | E1A binding protein p300 | Ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by FISH |
| Human | ELN | 2006 | elastin | Hemizygous deletion at 7q11.23 |
