10 May 2022
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)
26 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Ellen McDonagh approved panel
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Ellen McDonagh rejected panel
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Ellen McDonagh approved panel
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
VCAN
Ellen McDonagh commented on VCAN
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
UPF3B
Ellen McDonagh commented on UPF3B
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
TGFB3
Ellen McDonagh commented on TGFB3
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
SMAD6
Ellen McDonagh commented on SMAD6
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
SMAD4
Ellen McDonagh commented on SMAD4
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
SMAD2
Ellen McDonagh commented on SMAD2
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
SLC2A10
Ellen McDonagh commented on SLC2A10
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
SKI
Ellen McDonagh commented on SKI
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
PLOD3
Ellen McDonagh commented on PLOD3
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
PLOD1
Ellen McDonagh commented on PLOD1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
PKD2
Ellen McDonagh commented on PKD2
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
PKD1
Ellen McDonagh commented on PKD1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
NOTCH1
Ellen McDonagh commented on NOTCH1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
MED12
Ellen McDonagh commented on MED12
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
MAT2A
Ellen McDonagh commented on MAT2A
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
JAG1
Ellen McDonagh commented on JAG1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
HCN4
Ellen McDonagh commented on HCN4
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
GATA5
Ellen McDonagh commented on GATA5
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
FLNA
Ellen McDonagh commented on FLNA
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
FBN2
Ellen McDonagh commented on FBN2
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
ENG
Ellen McDonagh commented on ENG
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
EMILIN1
Ellen McDonagh commented on EMILIN1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
ELN
Ellen McDonagh commented on ELN
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
DBP
Ellen McDonagh commented on DBP
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL9A2
Ellen McDonagh commented on COL9A2
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL9A1
Ellen McDonagh commented on COL9A1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL5A2
Ellen McDonagh commented on COL5A2
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL5A1
Ellen McDonagh commented on COL5A1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL4A5
Ellen McDonagh commented on COL4A5
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL4A1
Ellen McDonagh commented on COL4A1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL1A2
Ellen McDonagh commented on COL1A2
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL1A1
Ellen McDonagh commented on COL1A1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL18A1
Ellen McDonagh commented on COL18A1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL11A1
Ellen McDonagh commented on COL11A1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
CBS
Ellen McDonagh commented on CBS
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
BGN
Ellen McDonagh commented on BGN
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
B3GAT3
Ellen McDonagh commented on B3GAT3
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
ADAMTS10
Ellen McDonagh commented on ADAMTS10
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
ACVRL1
Ellen McDonagh commented on ACVRL1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
MFAP5
Ellen McDonagh commented on MFAP5
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
FOXE3
Ellen McDonagh commented on FOXE3
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
EFEMP2
Ellen McDonagh commented on EFEMP2
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
TGFBR2
Ellen McDonagh commented on TGFBR2
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
TGFBR1
Ellen McDonagh commented on TGFBR1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
TGFB2
Ellen McDonagh commented on TGFB2
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
SMAD3
Ellen McDonagh commented on SMAD3
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
PRKG1
Ellen McDonagh commented on PRKG1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
MYLK
Ellen McDonagh commented on MYLK
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
MYH11
Ellen McDonagh commented on MYH11
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
LOX
Ellen McDonagh commented on LOX
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
FBN1
Ellen McDonagh commented on FBN1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL3A1
Ellen McDonagh edited their review of COL3A1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
ACTA2
Ellen McDonagh commented on ACTA2
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL3A1
Ellen McDonagh added COL3A1 to panel
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL3A1
Ellen McDonagh reviewed COL3A1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL3A1
Ellen McDonagh commented on COL3A1
23 Jun 2017
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
COL3A1
Ellen McDonagh classified COL3A1 as red