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  2. Stroke

Stroke (Version 1.16)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Stroke, HP:0001297
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.

Consider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.
Panel Activity

7 reviewers

  • Natasha Brown (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Suliman Khan (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

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

57 Entities

57 reviewed, 50 green

List Entity Reviews Mode of inheritance Details
57 Entitiess
Green List (high evidence)
ABCA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tangier disease MIM#205400
Tags
Green List (high evidence)
ABCC6
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pseudoxanthoma elasticum, MIM# 264800
  • Pseudoxanthoma elasticum, forme fruste, MIM# 177850
Tags
  • SV/CNV
Green List (high evidence)
ACAD9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Tags
  • treatable
Green List (high evidence)
ACTA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multisystemic smooth muscle dysfunction syndrome MIM#613834
Tags
Green List (high evidence)
ACVRL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Tags
Green List (high evidence)
ADA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688
Tags
Green List (high evidence)
ADAMTS13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thrombotic thrombocytopenic purpura, hereditary MIM#274150
Tags
  • treatable
Green List (high evidence)
APP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714
  • Cerebral amyloid angiopathy, APP-related
Tags
Green List (high evidence)
ASS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Citrullinemia, MIM# 215700
Tags
  • treatable
Green List (high evidence)
CBS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types MIM#236200
  • Thrombosis, hyperhomocysteinemic MIM#236200
Tags
  • treatable
Green List (high evidence)
CCM2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral cavernous malformations-2 MIM#603284
Tags
Green List (high evidence)
CD59
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy MIM#612300
Tags
Green List (high evidence)
COL3A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, vascular type MIM#130050
Tags
Green List (high evidence)
COL4A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Brain small vessel disease with or without ocular anomalies MIM#175780
  • Brain Small Vessel Disease with Hemorrhage
Tags
Green List (high evidence)
COL4A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Tags
Green List (high evidence)
COLGALT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Brain small vessel disease 3 MIM#618360
Tags
Green List (high evidence)
CTSA
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL)
Tags
  • founder
Green List (high evidence)
ENG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 187300
Tags
Green List (high evidence)
FOXC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Stroke
  • cerebral small-vessel disease
Tags
Green List (high evidence)
GLA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Fabry disease, MIM# 301500, MONDO:0010526
Tags
Green List (high evidence)
GUCY1A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Moyamoya 6 with achalasia MIM#615750
Tags
Green List (high evidence)
HBB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sickle cell anemia MIM#603903
Tags
  • SV/CNV
Green List (high evidence)
HTRA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • CARASIL syndrome, MIM# 600142
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779
Tags
Green List (high evidence)
JAM3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730
Tags
Green List (high evidence)
KRIT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cavernous malformations of CNS and retina MIM#116860
  • Cerebral cavernous malformations-1 MIM#116860
  • Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860
Tags
Green List (high evidence)
MMACHC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Tags
  • treatable
Green List (high evidence)
MUT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MIM# 251000
Tags
  • treatable
Green List (high evidence)
NF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurofibromatosis, type 1 MIM#162200
Tags
Green List (high evidence)
NIT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebrovascular disorder, NIT1-related (MONDO:0011057)
Tags
Green List (high evidence)
NOTCH3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Tags
Green List (high evidence)
OTC
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
  • Royal Melbourne Hospital
Phenotypes
  • Ornithine carbamoyltransferase deficiency, MIM# 311250
Tags
Green List (high evidence)
PCCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Propionicacidemia 606054
Tags
  • treatable
Green List (high evidence)
PCCB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Propionicacidemia, MIM# 606054
Tags
  • treatable
Green List (high evidence)
PDCD10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral cavernous malformations 3 MIM#603285
Tags
Green List (high evidence)
PDE3A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertension and brachydactyly syndrome MIM#112410
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)
POLG
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • POLG-related MELAS
Tags
Green List (high evidence)
PROC
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
Phenotypes
  • Thrombophilia due to protein C deficiency
Tags
Green List (high evidence)
PROS1
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
Phenotypes
  • Thrombophilia due to protein S deficiency
Tags
Green List (high evidence)
RNF213
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Moyamoya disease, MONDO:0016820
  • pediatric arterial ischemic stroke, MONDO:0018585
Tags
Green List (high evidence)
SAMHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aicardi-Goutieres syndrome 5 MIM#612952
Tags
Green List (high evidence)
SCN5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Atrial fibrillation, familial, 10 MIM#614022
Tags
Green List (high evidence)
SERPINC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thrombophilia due to antithrombin III deficiency MIM#613118
Tags
Green List (high evidence)
SLC2A10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Arterial tortuosity syndrome 208050
  • Moyamoya disease
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)
SMARCAL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Schimke immunoosseous dysplasia MIM#242900
Tags
Green List (high evidence)
STIM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Stormorken syndrome, MIM# 185070
Tags
Green List (high evidence)
TREX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, MIM# 192315
Tags
Green List (high evidence)
TTR
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related, MIM# 105210
Tags
Green List (high evidence)
YY1AP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Grange syndrome MIM#602531
Tags
Amber List (moderate evidence)
ANO1
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moyamoya disease 7, MIM# 620687
Tags
Amber List (moderate evidence)
CST3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cerebral amyloid angiopathy, MIM# 105150
Tags
  • founder
Amber List (moderate evidence)
FLNA
1 review
 Other
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Heterotopia, periventricular, 1 , MIM#300049
  • Melnick-Needles syndrome 30, MIM#9350
Tags
Red List (low evidence)
MYH11
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Aortic aneurysm, familial thoracic 4, MIM# 132900
Tags
Red List (low evidence)
NOS3
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • {Ischemic stroke, susceptibility to} MIM#601367
Tags
Red List (low evidence)
TRIM47
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Genetic cerebral small vessel disease MONDO:0018787
Tags
Red List (low evidence)
WFS1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Diabetes mellitus AND insipidus with optic atrophy AND deafness
Tags

Major version comments

  • 2021-05-21 08:16 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

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

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