Location |
Symbol |
Title |
MIM # |
Disorder |
Comments |
Method |
Mouse |
22q11-q13 |
XRCC6, G22P1, TLAA, Ku70 |
X-ray repair, complementing defecting, in chinese hamster, 6 |
152690 |
|
tight linkage to CYP2D |
REa, F |
15(Ku70) |
22q11.1 |
POTEH, POTE22, ACTBL1 |
POTE ankyrin domain family, member H |
608913 |
|
|
REc, A |
|
22q11.1 |
XKR3, XTES, XRG3 |
X Kell blood group precursor-related family, member 3 |
611674 |
|
|
REc |
|
22q11.1-q11.2 |
GGT1, GTG |
Gamma-glutamyltransferase-1 |
231950 |
Glutathioninuria (1) |
minor peak, q13.1 |
A, S, F, RE |
|
22q11.1-q11.2 |
LZTR1 |
Leucine-zipper-like regulator-1 |
600574 |
|
|
RE |
|
22q11.1 |
GGT2 |
Gamma-glutamyltransferase-2 |
137181 |
[Gamma-glutamyltransferase, familial high serum] (2) |
|
REn |
|
22q11.2 |
ADORA2A |
Adenosine A2a receptor |
102776 |
|
incorrectly assigned to 11q |
REa, REl, Psh, A |
|
22q11.2 |
ATP6V1E1, ATP6E |
ATPase, H+ transporting, lysosomal, 31kD, V1 subunit E isoform 1 |
108746 |
|
|
REa, REc |
6(Atp6e) |
22q11.2 |
BID |
BH3-interacting domain death agonist |
601997 |
|
|
Psh, D |
6(Bid) |
22q11.2 |
CABIN1, CAIN |
Calcineurin-binding protein 1 |
604251 |
|
|
REc |
|
22q11.2 |
DEL22q11.2, C22DELq11.2 |
Chromosome 22q11.2 deletion syndrome, distal |
611867 |
Chromosome 22q11.2 deletion syndrome, distal (4) |
|
Ch |
|
22q11.2 |
DUP22q11.2 |
Chromosome 22q11.2 microduplication syndrome |
608363 |
Chromosome 22q11.2 microduplication syndrome (4) |
contiguous gene microduplication syndrome |
Ch |
|
22q11.2 |
DER22t8-22 |
Supernumerary der(22)t(8;22) syndrome |
613700 |
Supernumerary der(22)t(8-22) syndrome (4) |
|
Ch |
|
22q11.2 |
DER22t11-22 |
Emanuel syndrome (supernumerary der(22)t(11;22) syndrome) |
609029 |
Emanuel syndrome (4) |
|
Ch |
|
22q11.2 |
CDC45L, CDC45L2 |
Cell division cycle 45, S. Cerevisiae, homolog-like |
603465 |
|
|
D, A, REc |
|
22q11.2 |
CECR2 |
Cat eye syndrome chromosome region, candidate 1 |
607575 |
|
|
REc |
|
22q11.2 |
CECR2, KIAA1740 |
Cat eye syndrome chromosome region, candidate 2 |
607576 |
|
|
REc |
6(Cecr2) |
22q11.2 |
CLDN5, TMVCF, AWAL |
Claudin-5 (transmembrane protein deleted in velocardiofacial syndrome) |
602101 |
|
|
REc |
16(Tmvcf) |
22q11.2 |
COMT |
Catechol-O-methyltransferase |
116790 |
{Schizophrenia, susceptibility to}, 181500 (3); {Panic disorder,susceptibility to}, 167870 (3) |
|
S, D, A, REn |
16(Comt) |
22q11.2 |
CLTCL1, CLTD |
Clathrin, heavy polypeptide-like 1 |
601273 |
|
|
RE |
11(Cltd) |
22q11.2 |
DDT |
D-dopachrome tautomerase |
602750 |
|
|
Fd, A |
10(Ddt) |