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  2. Cerebral vascular malformations

Cerebral vascular malformations (Version 1.0)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Abnormal cerebral vascular morphology HP:0100659
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes associated with cerebral vascular malformations, including:
Vein of Galen malformation
Cerebral vascular malformations
Moyamoya disease

Consider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.
With thanks to the Genomics England PanelApp team for the original design.
Panel Activity

9 reviewers

  • Natasha Brown (Victorian Clinical Genetics Services)

  • Sue White (Victorian Clinical Genetics Services)

  • Nicola Fearn (Royal Children's Hospital)

  • Suliman Khan (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Daniel Flanagan (Victorian Clinical Genetics Services)

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

50 Entities

50 reviewed, 24 green

List Entity Reviews Mode of inheritance Details
50 Entitiess
Green List (high evidence)
ACTA2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Multisystemic smooth muscle dysfunction syndrome,613834
  • Aortic aneurysm familial thoracic 6,611788
  • Moyamoya Disease
  • Moyamoya disease 5
  • Moyamoya disease 5,614042
Tags
Green List (high evidence)
ACVRL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
Tags
Green List (high evidence)
ANGPTL6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral aneurysm
Tags
Green List (high evidence)
CBL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • early-onset moyamoya angiopathy
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
Tags
Green List (high evidence)
CCM2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cerebral cavernous malformations 2
  • Cerebral Cavernous Malformation
  • Capillary malformation-arteriovenous malformation 608354
  • Cerebral Cavernous Malformations
Tags
Green List (high evidence)
COL3A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Ehlers-Danlos syndrome, type IV 130050
Tags
Green List (high evidence)
COL4A1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773
  • Brain small vessel disease with or without ocular anomalies, MIM# 175780
Tags
Green List (high evidence)
ENG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 187300
Tags
Green List (high evidence)
EPHB4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, 618196
Tags
Green List (high evidence)
FLVCR2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Tags
Green List (high evidence)
GUCY1A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Moyamoya 6 with achalasia
  • Moyamoya 6 with achalasia, 615750
Tags
Green List (high evidence)
KRIT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cavernous malformations of CNS and retina, 116860
  • Cerebral cavernous malformations-1, 116860
  • Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
Tags
  • founder
Green List (high evidence)
NF1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
  • Neurofibromatosis, type 1 162200
Tags
Green List (high evidence)
PCNT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II 210720
  • Moyamoya disease
Tags
Green List (high evidence)
PDCD10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cerebral Cavernous Malformations
  • Cerebral cavernous malformations 3
  • Cerebral cavernous malformations 3, 603285
  • Cerebral Cavernous Malformation
  • Familial Cerebral Cavernous Malformation
Tags
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
  • somatic
Green List (high evidence)
PIK3CA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cerebral cavernous malformations 4, MIM#619538
Tags
  • somatic
Green List (high evidence)
PKD1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Polycystic kidney disease, adult type I 173900
Tags
Green List (high evidence)
RASA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Parkes Weber syndrome
  • Capillary malformation-arteriovenous malformation, 608354
  • Parkes Weber Syndrome
  • Parkes Weber syndrome (PKWS)
  • Parkes Weber syndrome, 608355
  • Capillary Malformation-Arteriovenous Malformation Syndrome
Tags
Green List (high evidence)
RNF213
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • susceptibility to Moyamoya disease 2, (MIM# 607151)
Tags
Green List (high evidence)
SAMHD1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
Tags
Green List (high evidence)
SLC2A10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 208050
  • Moyamoya disease
  • Arterial tortuosity syndrome
Tags
Green List (high evidence)
SMAD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Tags
Green List (high evidence)
YY1AP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Grange syndrome, 602531
Tags
Amber List (moderate evidence)
ADA2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Sneddon syndrome 182410
  • Polyarteritis nodosa
Tags
Amber List (moderate evidence)
ANO1
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moyamoya disease 7, MIM# 620687
Tags
Amber List (moderate evidence)
CHD4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moya Moya
  • Sifrim-Hitz-Weiss syndrome, MIM# 617159
Tags
Amber List (moderate evidence)
CNOT3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moya Moya
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Tags
Amber List (moderate evidence)
HBB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Sickle cell anemia 603903
Tags
Amber List (moderate evidence)
PKD2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Polycystic kidney disease 2 613095
Tags
Amber List (moderate evidence)
SETD5
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moya Moya
  • Mental retardation, autosomal dominant 23, MIM# 615761
Tags
Amber List (moderate evidence)
SMAD9
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Tags
Amber List (moderate evidence)
THSD1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • subarachnoid hemorrhage
Tags
Red List (low evidence)
ABCC6
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
Tags
Red List (low evidence)
ACE
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • {Stroke, hemorrhagic}
Tags
Red List (low evidence)
ADGRG1
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • bilateral frontoparietal polymicrogyria MONDO:0011738
Tags
Red List (low evidence)
ANTXR1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • GAPO syndrome MONDO:0009263
Tags
Red List (low evidence)
ARX
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red List (low evidence)
ATR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 1 210600
Tags
Red List (low evidence)
BRCC3
1 review
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
Tags
Red List (low evidence)
CENPJ
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 4 613676
Tags
Red List (low evidence)
CEP152
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 5 613823
Tags
Red List (low evidence)
CEP63
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 6 614728
Tags
Red List (low evidence)
COL4A2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Stroke, hemorrhagic MIM#614519
Tags
Red List (low evidence)
CRB1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Pigmented paravenous chorioretinal atrophy MIM#172870
Tags
Red List (low evidence)
CTSA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • galactosialidosis MONDO:0009737
Tags
Red List (low evidence)
DCX
1 review
1 red 		Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • lissencephaly spectrum disorders MONDO:0018838
Tags
Red List (low evidence)
GDF2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506
Tags
Red List (low evidence)
MRVI1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Tags
Red List (low evidence)
MYH11
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Aortic aneurysm, familial thoracic 4, 132900
  • moyamoya-like angiopath
Tags

Major version comments

  • 2024-12-02 01:59 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
    All genes reviewed

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Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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