Description
This is a list of genes that have been curated by ClinGen for association with Familial thoracic aortic aneurysm and aortic dissection and are available here https://search.clinicalgenome.org/kb/gene-validity.

The validity classification by ClinGen for each gene-disease is reflected in the gene rating:
- Green = definitive or strong
- Amber = moderate
- Red = Disputed, Disputed, Limited, No Reported Evidence, or Refuted 

For full report and publications, see the ClinGen Gene Validity Curation for each gene: https://search.clinicalgenome.org/kb/gene-validity. 

This panel was created on 22nd June 2017.

1 reviewer

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

53 Entities

53 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
53 Entitiess
Green Green List (high evidence)
ACTA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Green Green List (high evidence)
COL3A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Green Green List (high evidence)
FBN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Green Green List (high evidence)
LOX
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Green Green List (high evidence)
MYH11
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Green Green List (high evidence)
MYLK
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Green Green List (high evidence)
PRKG1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Green Green List (high evidence)
SMAD3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Green Green List (high evidence)
TGFB2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Green Green List (high evidence)
TGFBR1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Green Green List (high evidence)
TGFBR2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Amber Amber List (moderate evidence)
EFEMP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Amber Amber List (moderate evidence)
FOXE3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Amber Amber List (moderate evidence)
MFAP5
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
ACVRL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
ADAMTS10
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
B3GAT3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
BGN
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
CBS
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
COL11A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
COL18A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
COL1A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
COL1A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
COL4A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
COL4A5
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
COL5A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
COL5A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
COL9A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
COL9A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
DBP
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
ELN
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
EMILIN1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
ENG
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
FBN2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
FLNA
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
GATA5
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
HCN4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
JAG1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
MAT2A
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
MED12
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
NOTCH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
PKD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
PKD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
PLOD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
PLOD3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
SKI
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
SLC2A10
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
SMAD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
SMAD4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
SMAD6
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
TGFB3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
UPF3B
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags
Red Red List (low evidence)
VCAN
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Tags

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