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ClinGen_Familial thoracic aortic aneurysm and aortic dissection v0.11 COL4A5 Arina Puzriakova Mode of inheritance for gene: COL4A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
ClinGen_Familial thoracic aortic aneurysm and aortic dissection Ellen McDonagh approved panel
ClinGen_Familial thoracic aortic aneurysm and aortic dissection Ellen McDonagh rejected panel
ClinGen_Familial thoracic aortic aneurysm and aortic dissection Ellen McDonagh approved panel
ClinGen_Familial thoracic aortic aneurysm and aortic dissection VCAN Ellen McDonagh commented on VCAN
ClinGen_Familial thoracic aortic aneurysm and aortic dissection UPF3B Ellen McDonagh commented on UPF3B
ClinGen_Familial thoracic aortic aneurysm and aortic dissection TGFB3 Ellen McDonagh commented on TGFB3
ClinGen_Familial thoracic aortic aneurysm and aortic dissection SMAD6 Ellen McDonagh commented on SMAD6
ClinGen_Familial thoracic aortic aneurysm and aortic dissection SMAD4 Ellen McDonagh commented on SMAD4
ClinGen_Familial thoracic aortic aneurysm and aortic dissection SMAD2 Ellen McDonagh commented on SMAD2
ClinGen_Familial thoracic aortic aneurysm and aortic dissection SLC2A10 Ellen McDonagh commented on SLC2A10
ClinGen_Familial thoracic aortic aneurysm and aortic dissection SKI Ellen McDonagh commented on SKI
ClinGen_Familial thoracic aortic aneurysm and aortic dissection PLOD3 Ellen McDonagh commented on PLOD3
ClinGen_Familial thoracic aortic aneurysm and aortic dissection PLOD1 Ellen McDonagh commented on PLOD1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection PKD2 Ellen McDonagh commented on PKD2
ClinGen_Familial thoracic aortic aneurysm and aortic dissection PKD1 Ellen McDonagh commented on PKD1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection NOTCH1 Ellen McDonagh commented on NOTCH1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection MED12 Ellen McDonagh commented on MED12
ClinGen_Familial thoracic aortic aneurysm and aortic dissection MAT2A Ellen McDonagh commented on MAT2A
ClinGen_Familial thoracic aortic aneurysm and aortic dissection JAG1 Ellen McDonagh commented on JAG1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection HCN4 Ellen McDonagh commented on HCN4
ClinGen_Familial thoracic aortic aneurysm and aortic dissection GATA5 Ellen McDonagh commented on GATA5
ClinGen_Familial thoracic aortic aneurysm and aortic dissection FLNA Ellen McDonagh commented on FLNA
ClinGen_Familial thoracic aortic aneurysm and aortic dissection FBN2 Ellen McDonagh commented on FBN2
ClinGen_Familial thoracic aortic aneurysm and aortic dissection ENG Ellen McDonagh commented on ENG
ClinGen_Familial thoracic aortic aneurysm and aortic dissection EMILIN1 Ellen McDonagh commented on EMILIN1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection ELN Ellen McDonagh commented on ELN
ClinGen_Familial thoracic aortic aneurysm and aortic dissection DBP Ellen McDonagh commented on DBP
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL9A2 Ellen McDonagh commented on COL9A2
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL9A1 Ellen McDonagh commented on COL9A1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL5A2 Ellen McDonagh commented on COL5A2
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL5A1 Ellen McDonagh commented on COL5A1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL4A5 Ellen McDonagh commented on COL4A5
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL4A1 Ellen McDonagh commented on COL4A1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL1A2 Ellen McDonagh commented on COL1A2
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL1A1 Ellen McDonagh commented on COL1A1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL18A1 Ellen McDonagh commented on COL18A1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL11A1 Ellen McDonagh commented on COL11A1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection CBS Ellen McDonagh commented on CBS
ClinGen_Familial thoracic aortic aneurysm and aortic dissection BGN Ellen McDonagh commented on BGN
ClinGen_Familial thoracic aortic aneurysm and aortic dissection B3GAT3 Ellen McDonagh commented on B3GAT3
ClinGen_Familial thoracic aortic aneurysm and aortic dissection ADAMTS10 Ellen McDonagh commented on ADAMTS10
ClinGen_Familial thoracic aortic aneurysm and aortic dissection ACVRL1 Ellen McDonagh commented on ACVRL1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection MFAP5 Ellen McDonagh commented on MFAP5
ClinGen_Familial thoracic aortic aneurysm and aortic dissection FOXE3 Ellen McDonagh commented on FOXE3
ClinGen_Familial thoracic aortic aneurysm and aortic dissection EFEMP2 Ellen McDonagh commented on EFEMP2
ClinGen_Familial thoracic aortic aneurysm and aortic dissection TGFBR2 Ellen McDonagh commented on TGFBR2
ClinGen_Familial thoracic aortic aneurysm and aortic dissection TGFBR1 Ellen McDonagh commented on TGFBR1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection TGFB2 Ellen McDonagh commented on TGFB2
ClinGen_Familial thoracic aortic aneurysm and aortic dissection SMAD3 Ellen McDonagh commented on SMAD3
ClinGen_Familial thoracic aortic aneurysm and aortic dissection PRKG1 Ellen McDonagh commented on PRKG1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection MYLK Ellen McDonagh commented on MYLK
ClinGen_Familial thoracic aortic aneurysm and aortic dissection MYH11 Ellen McDonagh commented on MYH11
ClinGen_Familial thoracic aortic aneurysm and aortic dissection LOX Ellen McDonagh commented on LOX
ClinGen_Familial thoracic aortic aneurysm and aortic dissection FBN1 Ellen McDonagh commented on FBN1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL3A1 Ellen McDonagh edited their review of COL3A1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection ACTA2 Ellen McDonagh commented on ACTA2
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL3A1 Ellen McDonagh added COL3A1 to panel
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL3A1 Ellen McDonagh reviewed COL3A1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL3A1 Ellen McDonagh commented on COL3A1
ClinGen_Familial thoracic aortic aneurysm and aortic dissection COL3A1 Ellen McDonagh classified COL3A1 as red