loading...| Preferred Name | LONG QT SYNDROME 2 | |
| Synonyms |
LONG QT SYNDROME 2/5, DIGENIC LQT1/2, DIGENIC LONG QT SYNDROME 1/2, DIGENIC LQT2/3, DIGENIC LONG QT SYNDROME 2/9, DIGENIC LQT2/5, DIGENIC LQT2 LONG QT SYNDROME 2/3, DIGENIC LQT2/9, DIGENIC |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/613688 |
|
| altLabel |
LONG QT SYNDROME 2/5, DIGENIC LQT1/2, DIGENIC LONG QT SYNDROME 1/2, DIGENIC LQT2/3, DIGENIC LONG QT SYNDROME 2/9, DIGENIC LQT2/5, DIGENIC LQT2 LONG QT SYNDROME 2/3, DIGENIC LQT2/9, DIGENIC |
|
| cui |
C3150943 C3279092 C3276240 C2678485 C3277700 |
|
| Gene Locus |
12q12 |
|
| Gene Symbol |
KCR1 ALG10B ALG10 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU005012 http://purl.bioontology.org/ontology/OMIM/MTHU005011 http://purl.bioontology.org/ontology/OMIM/MTHU005009 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
613688 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
LONG QT SYNDROME 2 |
|
| Scope Statement |
Patients with a more severe phenotype have been reported with mutations in more than 1 LQTS-related gene [MISCELLANEOUS] Genetic heterogeneity (see LQT1 192500) [MISCELLANEOUS] GEI (gene-environment interaction) - association of cardiac events with drug administration [MISCELLANEOUS] Caused by mutation in the potassium voltage-gated channel, subfamily H, member 2 gene or human ether-a-go-go related gene (KCNH2, 152427.0001) [MOLECULAR BASIS] Association of cardiac events with exercise [MISCELLANEOUS] |
|
| tui |
T047 |