Genes or genetic loci linked to ocular coloboma
|
274270 | DPD deficiency | I, C, M | AR | 1p22 |
DPD
| Van Gennip et al113 |
157170 | Holoprosencephaly 2 | I, M | AD | 2p21 |
SIX3
| Wallis et al81 |
235730 | Hirschsprung syndrome | I | AD | 2q22 |
ZFHX1B
| Gregory-Evans et al102, Hurst et al114 |
601110 | CGDS type IV | I | AR | 3q27 |
ALG3
| Korner et al115 |
180500 | Reiger syndrome type 1 | I, M | AD | 4p25 |
PITX2
| Ozkei et al116 |
121050 | CCA syndrome | R,C | AD | 5q23–q31 |
FBN2
| Bard et al117 |
154500 | Treacher Collins | I, O, L | AD | 5q32–q33.1 |
TCOF1
| Treacher Collins Syndrome Collaborative Group118 |
600725
|
Uveo-retinal coloboma
|
I, R, C, M
|
AD
|
7q36
|
SHH
| Schimmenti et al57 |
109400 | Basal cell nevus/Gorlin | I | AD/sporadic | 9q22.3 |
PTCH
| Hahn et al68 |
236670 | Walker-Warburg | O, M | AR | 9q34.1 |
POMT1
| Beltran-Valero de Bernabe et al119 |
213300 | Joubert syndrome I | R, C | AR | 9q34.3 | | Saar et al120 |
180250 | RBP deficiency | I | AD | 10q24 |
RBP4
| Seeliger et al65 |
120330 | Renal-coloboma | I, R, O,M | AD | 10q24.3–25q.1 |
PAX2
| Eccles and Schimmenti58 |
120200
|
Ocular coloboma
|
R, C, O
|
AD
|
11p13
|
PAX6
| Azuma et al74 |
608091 | Joubert syndrome II | R, C, O | AR | 11p12–q13.3 | | Keeler et al121 |
163950 | Noonan syndrome | I, R, O | AD | 12q24.1–q24.3 |
PTPN11
| Carvalho et al122 |
251600
|
Microphthalmia
|
R, C, M
|
AR
|
14q24.3
|
CHX10
| Percin et al76 |
600165
|
Microphthalmia
|
I, R, M
|
AD
|
15q12–q15
| | Morrison et al109 |
180849 | Rubinstein-Taybi | I, O | AD/del | 16p13.3 |
CREBBP
| Guion-Almeida and Richieri-Costa123 |
177075
|
Cataract/microcornea
|
I
|
AD/trans
|
16q22–q23
|
MAF
| Jamieson et al78 |
249000 | Meckel-Gruber | I | AR | 17q22–q23 | | MacRae et al124 |
166750 | Oculo-oto-dental | I, R | AD | 20q13.1 | | Vieira et al14 |
305600 | Goltz syndrome | I, C, O | X-linked dom | Xp22.31 | | Gorski125 |
304050 | Aicardi syndrome | O, I | X-linked dom | Xp22 | | Ropres et al126 |
300472 | Corpus callosum defect | I, O | X-linked rec | Xq13.1 |
IGBP1
| Graham et al127 |
309800 | Lenz syndrome | I, O, C, M | X-linked rec | Xq27–q28 |
BCOR
| Ng et al128 |
304120 | Oto-palato-digital type2 | I | X-linked dom | Xq28 |
FLNA
| Robertson et al129, Stratton et al130 |
|
Chromosomal aberrations associated with coloboma
|
120200
|
Iris coloboma
|
I
|
–
|
2p25–pter del
| | Arias et al131 |
243310 | Coloboma, ptosis, MR | I | – | 2p12–q14 inv | | Pallotta132 |
218650 | Craniosynostosis | R, C, O | – | 2q24–2q31 del | | Nixon et al133 |
194190 | Wolf-Hirschhorn | I | – | 4p16.3 del | | Zollino et al134 |
180500 | 4q26 deletion syndrome | I | – | 4q23–q27 del | | Motegi et al135 |
– | 7q deletion syndrome | R, C | – | 7q34–ter del | | Taysi et al136 |
147791 | Jacobsen syndrome | I, R, C | – | 11q23–q25 del | | Pivnick et al137 |
214800 | CHARGE association | I, R, C, O | – | 8q21.1 del |
CHD7
| Vissers et al138 |
– | 16q syndrome | I | – | 16q23–16q24.2 del | | Werner et al139 |
115470 | Cat eye syndrome | I, C, O, L | – | 22q11 inv dup | | McTaggart et al140 |
192430 | VCFS/Di George | I, R, C, M | – | 22q11.22 del | | Morrison et al141 |
300337 | Hypomelanosis of Ito | I | Mosaicism | Xp11.2 trans | | Bartholomew et al142 |