Table 2.
14-gene vascular malformation panel
| Gene name | Chromosomal locus | Protein name | Disease | Reference sequence | Exons |
|---|---|---|---|---|---|
| ENG a | 9q33-q34.1 | Endoglin | HHT | NM_001114753 | 14 |
| ACVRL1 a | 12q11-q14 | Activin A receptor type II-like 1 (ALK1) | HHT | NM_000020 | 10 |
| SMAD4 a | 18q21.1 | SMAD, mothers against DPP homolog 4 (Drosophila) MADH4 | HHT HHT/JPS JPS |
NM_005359 | 12 |
| GDF2/ BMP9 a | 10q11.22 | Growth differentiation factor 2 | HHT-like syndrome | NM_016204 | 2 |
| RASA1 a | 5q13.3 | RAS p21 protein activator (GTPase-activating protein) 1 |
RASA1-related disorders CM/AVM Parkes Weber Syndrome |
NM_002890 | 25 |
| PTEN | 10q23.3 | Phosphatase and tensin homolog | PHTS Cowden disease BRRS Proteus syndrome |
NM_000314 | 9 |
| TIE2/TEK | 9p21 | TEK tyrosine kinase, endothelial | Venous malformations | NM_000459 | 23 |
| GLMN | 1p22.1 | Glomulin, FKBP associated protein | Glomuvenous malformations | NM_053274 | 19 |
| KRIT1/ CCM1 | 7q11-22 | KRIT1, ankyrin repeat containing (CCM1) | Cerebral cavernous malformation | NM_194456 | 19 |
| CCM2 | 7p13 | Cerebral cavernous malformation 2 | Cerebral cavernous malformation | NM_031443 | 10 |
| PDCD10/ CCM3 | 3q26.1 | Programmed cell death 10 protein | Cerebral cavernous malformation | NM_007217 | 10 |
| BMPR2 | 2q33-34 | Bone morphogenetic protein receptor, type II | PAH | NM_001204 | 13 |
| CAV1 | 7q31 | Caveolin 1, caveolae protein, 22 kDa | PAH | NM_001753 | 3 |
| KCNK3 | 2p23 | Potassium channel, subfamily K, member 3 | PAH | NM_002246 | 2 |
BRRS Bannayan–Ruvalcaba–Riley syndrome, HHT hereditary hemorrhagic telangiectasia, JPS juvenile polyposis syndrome, PAH pulmonary arterial hypertension, PHTS PTEN hamartoma tumor syndrome.
aFive genes that comprise the HHT NGS panel