Pulmonology

Familial Pulmonary Hypertension (82 genes)

ABCA3, ACD, ACVRL1, AP3B1, ASAH1, ASCL1, BDNF, BLOC1S3, BLOC1S6, BMPR2, CASR, CCDC39, CCDC40, CFTR, CTC1, CSF2RA, CSF2RB, DKC1, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DOCK8, DTNBP1, EDN3, EFEMP2, ELMOD2, ELN, ENG, FAM111B, FARSA, FARSB, FBLN5, FLCN, GBA, GDNF, HCK, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA3, LTBP4, MARS1, MUC5B, NAF1, NF1, NHP2, NKX2-1, NME8, NOP10, PARN, PHOX2B, RET, RPA1, RSPH4A, RSPH9, RTEL1, SCNN1A, SCNN1B, SCNN1G, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC34A2, SLC7A7, SMAD9, SMPD1, STAT3, TERC, TERT, TINF2, TSC1, TSC2, ZCCHC8

Pneumothorax (34 genes)

ABCA3, ACD, ACVRL1, AP3B1, ASAH1, ASCL1, BDNF, BLOC1S3, BLOC1S6, BMPR2, CASR, CCDC39, CCDC40, CFTR, CTC1, CSF2RA, CSF2RB, DKC1, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DOCK8, DTNBP1, EDN3, EFEMP2, ELMOD2, ELN, ENG, FAM111B, FARSA, FARSB, FBLN5, FLCN, GBA, GDNF, HCK, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA3, LTBP4, MARS1, MUC5B, NAF1, NF1, NHP2, NKX2-1, NME8, NOP10, PARN, PHOX2B, RET, RPA1, RSPH4A, RSPH9, RTEL1, SCNN1A, SCNN1B, SCNN1G, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC34A2, SLC7A7, SMAD9, SMPD1, STAT3, TERC, TERT, TINF2, TSC1, TSC2, ZCCHC8

Hereditary hemorrhagic telangiectasia (15 genes)

AACVRL1, ATM, ATR, BMPR2, ENG, EPHB4, FOXF1, GDF2, KRIT1, MRE11, PIK3CA, RASA1, SMAD4, SOX18, TEK

Pulmonary Hypertension (21 genes)

ACVRL1, ATP13A3, BMPR2, EIF2AK4, ENG, GDF2, KCNK3, KDR, SMAD9, SOX17, TBX4, ABCC8, AQP1, CAV1, NFU1, SARS2, BMPR1B, CBLN2, KCNA5, SMAD1, SMAD4

Complete Pulmonary panel (135 genes)

ABCA3, ABCC8, ACD, ACTA2, ACVRL1, ADAMTS2, ALDH18A1, AP3B1, AQP1, ASAH1, ASCL1, ATM, ATP13A3, ATP6V0A2, ATP7A, ATR, BDNF, BLOC1S3, BLOC1S6, BMPR1B, BMPR2, BTNL2, CASR, CAV1, CBLN2, CCDC39, CCDC40, CFTR, CHST14, COL3A1, COL5A1, CTC1, CSF2RA, CSF2RB, DKC1, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DOCK8, DTNBP1, EDN3, EFEMP2, EIF2AK4, ELMOD2, ELN, ENG, EPHB4, FAM111B, FARSA, FARSB, FBLN5, FBN1, FLCN, FOXE3, FOXF1, GBA, GDF2, GDNF, HCK, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, ITGA3, KCNA5, KCNK3, KDR, KRIT1, LOX, LTBP4, MARS1, MFAP5, MRE11, MTHFR, MUC5B, MYH11, MYLK, NAF1, NF1, NFU1, NHP2, NKX2-1, NME8, NOP10, PARN, PHOX2B, PIK3CA, PRKG1, PYCR1, RASA1, RET, RPA1, RSPH4A, RSPH9, RTEL1, SARS2, SCNN1A, SCNN1B, SCNN1G, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC25A24, SLC34A2, SLC7A7, SMAD1, SMAD2, SMAD3, SMAD4, SMAD9, SMPD1, SOX17, SOX18, STAT3, TBX4, TEK, TERC, TERT, TGFB2, TGFB3, TGFBR1, TGFBR2, TINF2, TSC1, TSC2, ZCCHC8