Aortopathy_Connective Tissue Disorders (Version 2.0)

Level 2: Cardiovascular disorders

Relevant disorders: Aortic aneurysm, HP:0004942;Joint dislocation, HP:0001373;Cutis laxa, HP:0000973; Ectopia lentis, HP:0001083;Arachnodactyly, HP:0001166
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease

Description

This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.

It contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.

This panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the
The 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).

The panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.

Further comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.

Panel Activity

22 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Natasha Brown (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Michelle Torres (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Chris Ciotta (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Krithika Murali (Pathology Queensland)
Sarah Milton (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

101 Entities

101 reviewed, 78 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 101 Entitiess
Green Green List (high evidence)	ABL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital heart defects and skeletal malformations syndrome (MIM# 617602) Tags
Green Green List (high evidence)	ACTA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aortic aneurysm, familial thoracic 6, MIM# 611788 Tags
Green Green List (high evidence)	ADAMTS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Weill-Marchesani syndrome 1, recessive MIM#277600 Tags
Green Green List (high evidence)	ADAMTS17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Weill-Marchesani 4 syndrome, recessive MIM#613195 Tags
Green Green List (high evidence)	ADAMTS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410) Tags
Green Green List (high evidence)	ADAMTS6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Connective tissue disorder MONDO:0003900, ADAMTS6-related Tags
Green Green List (high evidence)	AEBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000 Tags
Green Green List (high evidence)	ALDH18A1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cutis laxa, autosomal dominant 3 (MIM# 616603) Cutis laxa, autosomal recessive, type IIIA (MIM# 219150) Tags
Green Green List (high evidence)	ARIH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related Tags
Green Green List (high evidence)	ASPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Traboulsi syndrome, MIM #601552 Tags
Green Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cutis laxa, autosomal recessive, type IIA (MIM# 219200), Wrinkly skin syndrome (MIM# 278250) Tags
Green Green List (high evidence)	ATP6V1A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cutis laxa, autosomal recessive, type IID (MIM# 617403) Tags
Green Green List (high evidence)	ATP6V1E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cutis laxa, autosomal recessive, type IIC MIM#617402 Tags
Green Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Occipital horn syndrome, MIM#304150 Menkes disease, MIM#309400 Tags treatable
Green Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ehlers Danlos syndrome, progeroid type, 2, 615349 Spondylodysplastic EDS Tags
Green Green List (high evidence)	B3GAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Disease associations Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 Larsen alike phenotype (skd incl) Tags
Green Green List (high evidence)	B4GALT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ehlers-Danlos syndrome with short stature and limb anomalies, 130070 Spondylodysplastic EDS Tags
Green Green List (high evidence)	BGN	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Meester-Loeys syndrome, MIM# 300989 Tags
Green Green List (high evidence)	C1R	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080) Tags
Green Green List (high evidence)	C1S	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174 Tags
Green Green List (high evidence)	CBS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Homocystinuria (MIM# 236200) Tags treatable
Green Green List (high evidence)	CHST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ehlers-Danlos syndrome, musculocontractural type 1 (MIM# 601776) Tags
Green Green List (high evidence)	COL11A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Stickler syndrome, type II MIM#604841 Tags
Green Green List (high evidence)	COL12A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Myopathic EDS Bethlem myopathy 2 MIM#616471 Ullrich congenital muscular dystrophy 2 MIM#616470 Tags
Green Green List (high evidence)	COL1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM# 130060 Tags
Green Green List (high evidence)	COL1A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821 Ehlers-Danlos syndrome, cardiac valvular type MIM#225320 Tags
Green Green List (high evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Stickler syndrome, type I MIM#108300 Tags
Green Green List (high evidence)	COL3A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome, vascular type, MIM# 130050 Polymicrogyria with or without vascular-type EDS, MIM# 618343 Tags
Green Green List (high evidence)	COL5A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome, classic type, 1, MIM# 130000 Fibromuscular dysplasia, multifocal, MIM# 619329 Tags
Green Green List (high evidence)	COL5A2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Ehlers-Danlos syndrome, classic type, 2, MIM#130010 Tags
Green Green List (high evidence)	DLG4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder 62, MIM#618793 Marfanoid features Tags
Green Green List (high evidence)	DSE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ehlers-Danlos syndrome, musculocontractural type 2 MIM#615539 Tags
Green Green List (high evidence)	EFEMP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cutis laxa, autosomal recessive, type ID, MIM# 620780 Tags
Green Green List (high evidence)	EFEMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cutis laxa, autosomal recessive, type IB MIM# 614437 Tags
Green Green List (high evidence)	ELN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Disease associations Cutis laxa 123700 Supravalvar aortic stenosis 185500 Tags
Green Green List (high evidence)	EMILIN1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neuronopathy, distal hereditary motor, type X, MIM# 620080 Arterial tortuosity-bone fragility syndrome, MIM# 620908 Tags
Green Green List (high evidence)	FBLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cutis laxa, autosomal recessive, type IA, MIM# 219100 Tags
Green Green List (high evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Marfan syndrome (154700) MASS syndrome (604308) Tags
Green Green List (high evidence)	FBN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Contractural arachnodactyly, congenital, MIM# 121050 Tags
Green Green List (high evidence)	FKBP14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557 Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400. Tags
Green Green List (high evidence)	FLNB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Atelosteogenesis, type I 108720 Atelosteogenesis, type III 108721 Larsen syndrome 150250 Spondylocarpotarsal synostosis syndrome 272460 Boomerang dysplasia 112310 Tags
Green Green List (high evidence)	GZF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Joint laxity, short stature, and myopia, MIM# 617662 Larsen-like syndrome Tags
Green Green List (high evidence)	IPO8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472 Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities Tags
Green Green List (high evidence)	KCNMA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Liang-Wang syndrome, MIM# 618729 Tags
Green Green List (high evidence)	LOX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aortic aneurysm, familial thoracic 10, MIM#617168 Tags
Green Green List (high evidence)	LTBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cutis laxa, autosomal recessive, type IIE MIM#619451 Tags
Green Green List (high evidence)	LTBP3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Thoracic aortic aneurysms and dissections Tags
Green Green List (high evidence)	LTBP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cutis laxa, autosomal recessive, type IC (MIM# 613177) Tags
Green Green List (high evidence)	MED12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Lujan-Fryns syndrome, MIM# 309520 Ohdo syndrome, X-linked, MIM# 300895 Opitz-Kaveggia syndrome, MIM# 305450 Tags
Green Green List (high evidence)	MYH11	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aortic aneurysm, familial thoracic 4, MIM#160745 Tags
Green Green List (high evidence)	MYLK	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aortic aneurysm, familial thoracic 7, MIM#613780 Tags
Green Green List (high evidence)	NOTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Aortic valve disease MIM# 109730 Thoracic aortic aneurysm Tags
Green Green List (high evidence)	NPR3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Boudin-Mortier syndrome, MIM#619543 Tall stature, skeletal abnormalities, aortic dilatation Tags
Green Green List (high evidence)	PCGF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Turnpenny-Fry syndrome, MIM#618371 Tags
Green Green List (high evidence)	PDGFRB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations aneurysm scoliosis atrophic skin stroke infantile myofibromatosis Tags somatic
Green Green List (high evidence)	PLOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400 Tags
Green Green List (high evidence)	PLOD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lysyl hydroxylase 3 deficiency, MIM#612394 Tags
Green Green List (high evidence)	PMEPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hereditary disorder of connective tissue, MONDO:0023603, PMEPA1-related Tags
Green Green List (high evidence)	PRDM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Brittle cornea syndrome 2, MIM#614170 Tags
Green Green List (high evidence)	PRKG1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aortic aneurysm, familial thoracic 8, MIM#615436 Tags
Green Green List (high evidence)	PTDSS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Lenz-Majewski hyperostotic dwarfism MIM#151050 Tags
Green Green List (high evidence)	PYCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cutis laxa, autosomal recessive, type IIB, MIM# 612940 Cutis laxa, autosomal recessive, type IIIB, MIM# 614438 Tags
Green Green List (high evidence)	RIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Macrocephaly, alopecia, cutis laxa, and scoliosis (MIM# 613075) Tags
Green Green List (high evidence)	SECISBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Thyroid hormone metabolism, abnormal, 1 MIM#609698 Selenoprotein deficiency Tags
Green Green List (high evidence)	SKI	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Shprintzen-Goldberg syndrome, MIM#182212 Tags
Green Green List (high evidence)	SLC2A10	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Arterial tortuosity syndrome MIM#208050 Tags
Green Green List (high evidence)	SLC39A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ehlers-Danlos syndrome, spondylodysplastic type, MIM# 612350 Tags
Green Green List (high evidence)	SMAD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Loeys-Dietz syndrome 6, MIM# 619656 Tags
Green Green List (high evidence)	SMAD3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Loeys-Dietz syndrome 3, MIM# 613795 Tags
Green Green List (high evidence)	SMAD4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050 Thoracic aortic aneurysm Tags
Green Green List (high evidence)	TGFB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Loeys-Dietz syndrome 4, MIM# 614816 Tags
Green Green List (high evidence)	TGFB3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Loeys-Dietz syndrome 5, MI# 615582 Tags
Green Green List (high evidence)	TGFBR1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Loeys-Dietz syndrome 1, MIM# 609192 Tags
Green Green List (high evidence)	TGFBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Loeys-Dietz syndrome 2, MIM# 610168 Tags
Green Green List (high evidence)	THSD4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Aortic aneurysm, familial thoracic 12, MIM# 619825 Tags
Green Green List (high evidence)	TNXB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408 Tags
Green Green List (high evidence)	ZNF469	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Brittle cornea syndrome 1,MIM# 229200 Tags
Amber Amber List (moderate evidence)	ABCC6	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Pseudoxanthoma elasticum (MIM# 264800) Tags
Amber Amber List (moderate evidence)	ADAMTSL2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Dermatosparaxic Ehlers Danlos syndrome Tags
Amber Amber List (moderate evidence)	CDKL1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Connective tissue disorder, MONDO:0003900, CDKL1-related Tags
Amber Amber List (moderate evidence)	COL6A1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Bethlem myopathy 1 MIM #158810 Ullrich congenital muscular dystrophy 1 MIM #254090 Tags
Amber Amber List (moderate evidence)	COL6A3	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Bethlem myopathy 1 MIM #158810 Ullrich congenital muscular dystrophy 1 MIM #254090 Tags
Amber Amber List (moderate evidence)	FOXE3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations {Aortic aneurysm, familial thoracic 11, susceptibility to}, MIM# 617349 Tags
Amber Amber List (moderate evidence)	GORAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Geroderma osteodysplasticum MIM#231070 Tags
Amber Amber List (moderate evidence)	HCN4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Disease associations Sick sinus syndrome 2 with cardiac noncompaction and ascending aorta dilation Tags
Amber Amber List (moderate evidence)	JAG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations thoracic aortic aneurysm MONDO:0005396 Tags
Amber Amber List (moderate evidence)	MAPK8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Chronic mucocutaneous candidiasis Connective tissue disorders Tags
Amber Amber List (moderate evidence)	MAT2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Disease associations Thoracic aortic aneurysm Tags
Amber Amber List (moderate evidence)	MFAP5	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Aortic aneurysm, familial thoracic MIM# 616166 MONDO:0014514 Tags
Amber Amber List (moderate evidence)	PIEZO2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Marden-Walker syndrome (MIM#248700) Arthrogryposis, distal, type 3 (MIM#114300) Arthrogryposis, distal, type 5 (MIM#108145) Tags
Amber Amber List (moderate evidence)	ROBO4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Aortic valve disease 8, MIM# 618496 bicuspid aortic valve ascending aortic aneurysm ascending aorta dilatation Tags
Amber Amber List (moderate evidence)	SMAD6	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Aortic valve disease 2 MIM# 614823 Tags
Amber Amber List (moderate evidence)	THBS2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Ehlers-Danlos syndrome, classic type, 3, MIM# 620865 Tags
Amber Amber List (moderate evidence)	TLN1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations idiopathic spontaneous coronary artery dissection MONDO:0007385 Tags
Red Red List (low evidence)	COL6A2	3 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Myopathic EDS Bethlem myopathy 1 MIM #158810 Ullrich congenital muscular dystrophy 1 MIM #254090 Tags
Red Red List (low evidence)	HEY2	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations congenital heart defects and thoracic aortic aneurysms Tags
Red Red List (low evidence)	KLK15	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Disease associations hypermobile Ehlers-Danlos syndrome MONDO:0007523 Tags
Red Red List (low evidence)	MYADML2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations MYADML2-related connective tissue disroder MONDO:0003900 Tags SV/CNV
Red Red List (low evidence)	P4HA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Joint hypermobility Contractures Hypotonia Mild skeletal dysplasia without bone fragility High myopia Tags
Red Red List (low evidence)	PI4K2A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Cutis laxa, intellectual disability, movement disorder Tags

Aortopathy_Connective Tissue Disorders (Version 2.0)

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