| Location |
Symbol |
Title |
MIM # |
Disorder |
Comments |
Method |
Mouse |
| 1q21-q32 |
ATP1A4, ATP1AL2 |
ATPase, Na+/K+ transporting, alpha-4 polypeptide |
607321 |
|
|
REc |
1(Atp1a4) |
| 1q21.1 |
DEL1q21, C1DELq21 |
Chromosome 1q21.1 deletion syndrome |
612474 |
Chromosome 1q21.1 deletion syndrome (4) |
contiguous gene deletion syndrome |
Ch |
|
| 1q21.1 |
DUP1q21, C1DUPq21 |
Chromosome 1q21.1 duplication syndrome |
612475 |
Chromosome 1q21.1 duplication syndrome (4) |
contiguous gene duplication syndrome |
Ch |
|
| 1q21.1 |
FMO5 |
Flavin-containing monooxygenase 5 |
603957 |
|
|
Psh, REc, A |
|
| 1q21.1 |
GJA5, CX40 |
Gap junction protein, alpha-5, 40kD (connexin 40) |
121013 |
Atrial fibrillation, 608583 (3) |
|
REa, A |
3(Gja5) |
| 1q21.1 |
GJA8, CX50, CAE1 |
Gap junction membrane channel protein alpha-8 (connexin 50) |
600897 |
Cataract, zonular pulverulent-1, 116200 (3); Cataract, nuclearprogressive (3); Cataract-microcornea syndrome, 116150 (3); Cataract, nuclear pulverulent (3) |
|
A, F |
3(Gja8) |
| 1q21.1 |
GPR89A |
G protein-coupled receptor 89A |
612821 |
|
|
REc |
|
| 1q21.1 |
GPR89B, GPHR |
G protein-coupled receptor 89B |
612806 |
|
|
REc |
|
| 1q21.1 |
HYDIN2, KIAA1864 |
Hydin, mouse, homolog of, 2 |
610813 |
|
duplicated copy 16q22.2 |
R, REc |
|
| 1q21.1 |
NBLST6 |
Neuroblastoma, susceptibility to, 6 |
613017 |
{Neuroblastoma, susceptibility to, 6} (2) |
?contiguous gene deletion or duplication disease |
Ch |
|
| 1q21.1 |
NBPF15, MGC8902 |
Neuroblastoma breakpoint family, member 15 |
610414 |
|
contains 6 copies of DUF1220 domain |
REc, A |
|
| 1q21.1 |
NBPF23 |
Neuroblastoma breakpoint family, member 23 |
612970 |
|
|
REc |
|
| 1q21.1 |
PEA15, HMAT1, PED |
Phosphoprotein enriched in astrocytes, 15kD |
603434 |
|
|
R, A |
|
| 1q21.1 |
TAR |
Thrombocytopenia-absent radius syndrome |
274000 |
Thrombocytopenia-absent radius syndrome (2) |
microdeletion of 1q21.1 |
D |
|
| 1q21.1-q21.3 |
PIK4CB |
Phosphatidylinositol 4-kinase, catalytic, beta polypeptide |
602758 |
|
|
REa, A, R |
|
| 1q21.1-q21.3 |
RFX5 |
Regulatory factor X, 5 (influences HLA class II expression) |
601863 |
Bare lymphocyte syndrome, type II, complementation group C, 209920(3); Bare lymphocyte syndrome, type II, complementation group E, 209920 (3) |
|
A |
|
| 1q21.2 |
ENSA |
Endosulfine, alpha |
603061 |
|
|
REc |
|
| 1q21.2 |
GOLPH3L, GPP34R |
Golgi phosphoprotein 3-like |
612208 |
|
|
R, REc |
|
| 1q21.2 |
HPRP3, RP18 |
RNA splicing factor, U4/U6-associated |
607301 |
Retinitis pigmentosa-18, 601414 (3) |
|
Fd, A |
|
| 1q21.2 |
LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B |
Lamin A/C |
150330 |
Emery-Dreifuss muscular dystrophy, AD, 181350 (3); Cardiomyopathy, dilated, 1A, 115200 (3); Lipodystrophy, familial partial, 151660 (3);Emery-Dreifuss muscular dystrophy, AR, 604929 (3); Charcot-Marie-Tooth disease,type 2B1, 605588 (3); Muscular dystrophy, limb-girdle, type 1B, 159001 (3); Mandibuloacral dysplasia, 248370 (3); Hutchinson-Gilford progeria, 176670 (3); LDHCP syndrome, 608056 (3); Werner syndrome, atypical, 277700 (3); Myopathy, early-onset, and progeroid features, 176670 (3); Restrictive dermopathy, lethal, 275210 (3); Arthropathy, tendinous calcinosis, and progeroid features, 611618 (3); Heart-hand syndrome, Slovenian type, 610140 (3) |
|
A, Fd, R |
3(Lmna) |
| 1q21.2 |
OTUD7B, CEZANNE |
OTU domain-containing protein 7B |
611748 |
|
|
R, REc |
|