Syndrome |
Further Information |
Gene (alias) (Syndrome) |
|
Cardiology |
Atrial Septal Defect with Atrioventricular Block (ASD-AVB)
|
|
NKX2-5 (ASD-AVB)
|
|
|
|
ACTC (DCM)
MYH7 (DCM)
MYBPC3 (DCM)
TNNI3 (cTnI) (DCM)
TNNT2 (cTnT) (DCM)
TPM1 (DCM)
|
Early-Onset Coronary Heart Disease
|
|
LDLR (Early-onset CHD)
APOB (Early-onset CHD)
|
Hypertrophic Cardiomyopathy (HCM)
|
|
ACTC (HCM)
LAMP2 (HCM)
MYBPC3 (HCM)
MYH7 (HCM)
MYL2 (HCM)
MYL3 (HCM)
PRKAG2 (HCM)
TNNI3 (cTnI) (HCM)
TNNT2 (cTnT) (HCM)
TPM1 (HCM)
|
|
|
|
FBN1 (MFS)
|
|
|
|
PTPN11
|
|
Nephrology |
Renal Cysts and Diabetes Syndrome (RCAD)
|
|
TCF2 (HNF1B) (RCAD)
|
|
|
|
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. |
