Syndrome |
Further Information |
Gene (alias) (Syndrome) |
|
Cardiology |
Arrthythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)
|
|
DSC2
DSG2
DSP
PKP2
TMEM43
|
Atrial Septal Defect with Atrioventricular Block (ASD-AVB)
|
|
NKX2-5
|
Dilated Cardiomyopathy (DCM)
|
|
ACTC
LMNA
MYH7
MYBPC3
TNNI3 (cTnI)
TNNT2 (cTnT)
TPM1
|
Early-Onset Coronary Heart Disease
|
|
LDLR
APOB
|
Hypertrophic Cardiomyopathy (HCM)
|
|
ACTC
LAMP2
MYBPC3
MYH7
MYL2
MYL3
PRKAG2
TNNI3 (cTnI)
TNNT2 (cTnT)
TPM1
|
Loeys-Dietz Syndrome (LDS)
|
|
TGFBR1
TGFBR2
|
|
|
|
FBN1
|
|
|
|
PTPN11
|
Thoracic Aortic Aneurysms and Dissections (TAAD)
|
|
FBN1
TGFBR1
TGFBR2
|
|
Nephrology |
Renal Cysts and Diabetes Syndrome (RCAD)
|
|
TCF2 (HNF1B)
|
|
|
|
VHL
|
|
Ophthalmology
|
|
|
|
BBS1
BBS2
|
|
|
|
VHL
|
| |
|
*GeneReviews are syndrome descriptions published online by GeneTests.org.
**For the purpose of this table, "pathogenic" includes: known to be pathogenic, probably pathogenic, and possibly pathogenic variants. |
