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  2. Vascular Malformations_Germline

Vascular Malformations_Germline (Version 1.12)

Level 2: Cardiovascular disorders

Relevant disorders: Abnormal vascular morphology HP:0025015
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that cause Mendelian vascular malformation disorders, particularly those presenting with skin lesions. Genes causing sporadic and congenital vascular malformations through somatic activating mutations are rated Red and labelled 'somatic'. This gene panel is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.

If a sample of affected tissue is being tested, please use the Vascular Malformations_Somatic panel.
Panel Activity

9 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Natasha Brown (Victorian Clinical Genetics Services)

  • Chris Richmond (Genetic Health Queensland)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

42 Entities

42 reviewed, 17 green

List Entity Reviews Mode of inheritance Details
42 Entitiess
Green List (high evidence)
ACVRL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • cerebral pulmonary arteriovenous malformation
  • pulmonary arteriovenous malformation
  • hepatic arteriovenous malformation
  • epistaxis
  • pulmonary arterial hypertension
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
  • telangiectasia
Tags
Green List (high evidence)
AKT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)
Tags
Green List (high evidence)
ATM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ataxia-telangiectasia, MIM# 208900
Tags
Green List (high evidence)
ELMO2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Vascular malformation, primary intraosseous, MIM#606893
Tags
Green List (high evidence)
ENG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epistaxis (HP:0000421)
  • Spinal arteriovenous malformation (HP:0002390)
  • Tongue telangiectasia (HP:0000227)
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
  • Cerebral arteriovenous malformation (HP:0002408)
  • Palate telangiectasia (HP:0002707)
  • Hepatic arteriovenous malformation (HP:0006574
  • Lip telangiectasia (HP:0000214)
  • Arteriovenous malformation (HP:0100026)
  • Nasal mucosa telangiectasia (HP:0000434)
  • Pulmonary arteriovenous malformation (HP:0006548)
  • )
  • Finger pad telangiectasia (pulp not nail side)
  • Gastrointestinal telangiectasia (HP:0002604)
Tags
Green List (high evidence)
EPHB4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, MIM#618196
Tags
Green List (high evidence)
GDF2
2 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5 615506
  • pulmonary arteriovenous malformations
Tags
Green List (high evidence)
GLMN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glomuvenous malformations, MIM# 138000
Tags
Green List (high evidence)
KRIT1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebral cavernous malformations-1 116860
  • Cavernous malformations of CNS and retina 116860
  • Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
Tags
  • founder
Green List (high evidence)
PDGFRB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • aneurysm
  • scoliosis
  • atrophic skin
  • stroke
  • infantile myofibromatosis
Tags
Green List (high evidence)
PIK3CA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501
Tags
  • somatic
Green List (high evidence)
PTEN
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cowden syndrome 1, MIM# 158350
  • Bannayan-Riley-Ruvalcaba syndrome
  • Lhermitte-Duclos syndrome
Tags
Green List (high evidence)
RASA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Capillary malformation-arteriovenous malformation, MIM# 608354
Tags
Green List (high evidence)
SMAD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Tags
Green List (high evidence)
SOX18
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Tags
Green List (high evidence)
STAMBP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Microcephaly-capillary malformation syndrome, MIM# 614261
Tags
Green List (high evidence)
TEK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal 600195
Tags
Amber List (moderate evidence)
CCM2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cerebral cavernous malformations-2, MIM# 603284
Tags
  • SV/CNV
Amber List (moderate evidence)
CDKN1C
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Beckwith-Wiedemann syndrome 130650
Tags
Amber List (moderate evidence)
GPAA1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Vascular anomalies
Tags
Amber List (moderate evidence)
GPRASP1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256
Tags
Amber List (moderate evidence)
KDR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • {Hemangioma, capillary infantile, susceptibility to} 602089
  • Hemangioma, capillary infantile, somatic 602089
  • Cystic hygroma
Tags
  • somatic
Amber List (moderate evidence)
LRRC8C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • TIMES syndrome MIM#621056
Tags
Amber List (moderate evidence)
PDCD10
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cerebral cavernous malformations 3
Tags
Red List (low evidence)
AKT1
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Proteus syndrome, somatic 176920
  • Cowden syndrome 6 615109
Tags
  • somatic
Red List (low evidence)
ARL6IP6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Cutis marmorata telangiectatica congenita
Tags
Red List (low evidence)
ATR
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564
Tags
Red List (low evidence)
BRAF
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Sporadic vascular malformations
Tags
  • somatic
Red List (low evidence)
GNA11
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Somatic hemangioma
Tags
  • somatic
Red List (low evidence)
GNA14
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Tufted angioma
  • Anastomosing hemangioma
  • vascular tumours
Tags
  • somatic
Red List (low evidence)
GNAQ
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic 185300
  • Capillary malformations, congenital, 1, somatic, mosaic 163000
  • Phacomatosis pigmentovascularis
Tags
  • somatic
Red List (low evidence)
HRAS
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Extracranial arteriovenous malformations
  • Vascular malformation/overgrowth syndromes
Tags
  • somatic
Red List (low evidence)
KRAS
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Arteriovenous malformation of the brain, somatic 108010
  • Vascular malformation
Tags
  • somatic
Red List (low evidence)
MAP2K1
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Intramuscular fast-flow vascular anomaly
  • Arteriovenous malformation
Tags
  • somatic
Red List (low evidence)
MAP3K3
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Verrucous venous malformation
Tags
  • somatic
Red List (low evidence)
MTOR
1 review
 Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Smith-Kingsmore syndrome 616638
  • Focal cortical dysplasia, type II, somatic 607341
Tags
  • somatic
Red List (low evidence)
NRAS
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Kaposiform lymphangiomatosis
  • Sporadic vascular malformation
Tags
  • somatic
Red List (low evidence)
PIK3R1
1 review
1 red 		Other
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • capillary and lymphatic malformation
Tags
  • somatic
Red List (low evidence)
PIK3R2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Tags
Red List (low evidence)
PTPN11
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • LEOPARD syndrome 1 151100
  • Noonan syndrome 1 163950
  • cystic hygroma
Tags
Red List (low evidence)
PTPN14
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Choanal atresia and lymphedema 613611
Tags
Red List (low evidence)
SOS1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Noonan syndrome 4 610733
Tags
  • somatic

Major version comments

  • 2021-01-16 07:25 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

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