PanelApp (test)
  1. Panels
  2. Vascular Malformations_Germline
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

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Chris Richmond (Genetic Health Queensland)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Natasha Brown (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

42 Entities

42 reviewed, 17 green

List Entity Reviews Mode of inheritance Details
42 Entitiess
Green Green List (high evidence)
ACVRL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • cerebral pulmonary arteriovenous malformation
  • pulmonary arteriovenous malformation
  • hepatic arteriovenous malformation
  • epistaxis
  • pulmonary arterial hypertension
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
  • telangiectasia
Tags
Green Green List (high evidence)
AKT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Disease associations
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)
Tags
Green Green List (high evidence)
ATM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Ataxia-telangiectasia, MIM# 208900
Tags
Green Green List (high evidence)
ELMO2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Disease associations
  • Vascular malformation, primary intraosseous, MIM#606893
Tags
Green Green List (high evidence)
ENG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • 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 Green List (high evidence)
EPHB4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Capillary malformation-arteriovenous malformation 2, MIM#618196
Tags
Green 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
Disease associations
  • Telangiectasia, hereditary hemorrhagic, type 5 615506
  • pulmonary arteriovenous malformations
Tags
Green Green List (high evidence)
GLMN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Glomuvenous malformations, MIM# 138000
Tags
Green 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
Disease associations
  • 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 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
Green Green List (high evidence)
PIK3CA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501
Tags
  • somatic
Green Green List (high evidence)
PTEN
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Cowden syndrome 1, MIM# 158350
  • Bannayan-Riley-Ruvalcaba syndrome
  • Lhermitte-Duclos syndrome
Tags
Green Green List (high evidence)
RASA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Capillary malformation-arteriovenous malformation, MIM# 608354
Tags
Green Green List (high evidence)
SMAD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Tags
Green Green List (high evidence)
SOX18
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Tags
Green Green List (high evidence)
STAMBP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Microcephaly-capillary malformation syndrome, MIM# 614261
Tags
Green Green List (high evidence)
TEK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Venous malformations, multiple cutaneous and mucosal 600195
Tags
Amber Amber List (moderate evidence)
CCM2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Disease associations
  • Cerebral cavernous malformations-2, MIM# 603284
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
CDKN1C
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • Beckwith-Wiedemann syndrome 130650
Tags
Amber Amber List (moderate evidence)
GPAA1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Vascular malformation, MONDO:0024291, GPAA1-related
Tags
Amber Amber List (moderate evidence)
GPRASP1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256
Tags
Amber Amber List (moderate evidence)
KDR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • {Hemangioma, capillary infantile, susceptibility to} 602089
  • Hemangioma, capillary infantile, somatic 602089
  • Cystic hygroma
Tags
  • somatic
Amber Amber List (moderate evidence)
LRRC8C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • TIMES syndrome MIM#621056
Tags
Amber Amber List (moderate evidence)
PDCD10
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Disease associations
  • Cerebral cavernous malformations 3
Tags
Red Red List (low evidence)
AKT1
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Proteus syndrome, somatic 176920
  • Cowden syndrome 6 615109
Tags
  • somatic
Red Red List (low evidence)
ARL6IP6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Disease associations
  • Cutis marmorata telangiectatica congenita
Tags
Red Red List (low evidence)
ATR
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564
Tags
Red Red List (low evidence)
BRAF
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Sporadic vascular malformations
Tags
  • somatic
Red Red List (low evidence)
GNA11
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Disease associations
  • Somatic hemangioma
Tags
  • somatic
Red Red List (low evidence)
GNA14
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Tufted angioma
  • Anastomosing hemangioma
  • vascular tumours
Tags
  • somatic
Red Red List (low evidence)
GNAQ
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Sturge-Weber syndrome, somatic, mosaic 185300
  • Capillary malformations, congenital, 1, somatic, mosaic 163000
  • Phacomatosis pigmentovascularis
Tags
  • somatic
Red Red List (low evidence)
HRAS
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Extracranial arteriovenous malformations
  • Vascular malformation/overgrowth syndromes
Tags
  • somatic
Red Red List (low evidence)
KRAS
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Arteriovenous malformation of the brain, somatic 108010
  • Vascular malformation
Tags
  • somatic
Red Red List (low evidence)
MAP2K1
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Intramuscular fast-flow vascular anomaly
  • Arteriovenous malformation
Tags
  • somatic
Red Red List (low evidence)
MAP3K3
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Verrucous venous malformation
Tags
  • somatic
Red Red List (low evidence)
MTOR
1 review
 Other
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Smith-Kingsmore syndrome 616638
  • Focal cortical dysplasia, type II, somatic 607341
Tags
  • somatic
Red Red List (low evidence)
NRAS
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Kaposiform lymphangiomatosis
  • Sporadic vascular malformation
Tags
  • somatic
Red Red List (low evidence)
PIK3R1
1 review
1 red 		Other
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • capillary and lymphatic malformation
Tags
  • somatic
Red Red List (low evidence)
PIK3R2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Tags
Red Red List (low evidence)
PTPN11
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • LEOPARD syndrome 1 151100
  • Noonan syndrome 1 163950
  • cystic hygroma
Tags
Red Red List (low evidence)
PTPN14
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Choanal atresia and lymphedema 613611
Tags
Red Red List (low evidence)
SOS1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Noonan syndrome 4 610733
Tags
  • somatic

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