Stroke (Version 1.19)

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

21 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Natasha Brown (Victorian Clinical Genetics Services)
Natalie Tan (Victorian Clinical Genetics Services)
Chris Richmond (Genetic Health Queensland)
Eleanor Williams (Genomics England)
Arina Puzriakova (Genomics England)
Samantha Ayres (Victorian Clinical Genetics Services)
Danielle Ariti (University of Melbourne)
Manny Jacobs (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Achchuthan Shanmugasundram (Genomics England)
Ee Ming Wong (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Elena Savva (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Katrina Bell (Murdoch Children's Research Institute)
Krithika Murali (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

58 Entities

58 reviewed, 50 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 58 Entitiess
Green Green List (high evidence)	ABCA1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Tangier disease MIM#205400 Tags
Green Green List (high evidence)	ABCC6	3 reviews 2 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 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 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 Green List (high evidence)	ACVRL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376 Tags
Green Green List (high evidence)	ADA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688 Tags
Green Green List (high evidence)	ADAMTS13	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Thrombotic thrombocytopenic purpura, hereditary MIM#274150 Tags treatable
Green 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 Green List (high evidence)	ASS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Phenotypes Citrullinemia, MIM# 215700 Tags treatable
Green Green List (high evidence)	CBS	2 reviews 2 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 Green List (high evidence)	CCM2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cerebral cavernous malformations-2 MIM#603284 Tags
Green Green List (high evidence)	CD59	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy MIM#612300 Tags
Green 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 Green List (high evidence)	COL4A1	2 reviews 2 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 Green List (high evidence)	COL4A2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Tags
Green 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 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 Green List (high evidence)	ENG	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Telangiectasia, hereditary hemorrhagic, type 1 187300 Tags
Green Green List (high evidence)	FOXC1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Stroke cerebral small-vessel disease Tags
Green 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 Green List (high evidence)	GUCY1A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Moyamoya 6 with achalasia MIM#615750 Tags
Green Green List (high evidence)	HBB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Sickle cell anemia MIM#603903 Tags SV/CNV
Green Green List (high evidence)	HTRA1	2 reviews 2 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 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 Green List (high evidence)	KRIT1	2 reviews 2 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 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 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 Green List (high evidence)	NF1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurofibromatosis, type 1 MIM#162200 Tags
Green 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 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 Green List (high evidence)	OTC	2 reviews 2 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 Green List (high evidence)	PCCA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Propionicacidemia 606054 Tags treatable
Green Green List (high evidence)	PCCB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Propionicacidemia, MIM# 606054 Tags treatable
Green Green List (high evidence)	PDCD10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Cerebral cavernous malformations 3 MIM#603285 Tags
Green Green List (high evidence)	PDE3A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypertension and brachydactyly syndrome MIM#112410 Tags
Green Green List (high evidence)	PDGFRB	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes aneurysm scoliosis atrophic skin stroke infantile myofibromatosis Tags somatic
Green Green List (high evidence)	POLG	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes POLG-related MELAS Tags
Green Green List (high evidence)	PROC	2 reviews 2 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 Green List (high evidence)	PROS1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Thrombophilia due to protein S deficiency Tags
Green Green List (high evidence)	RNF213	2 reviews 2 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 Green List (high evidence)	SAMHD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 5 MIM#612952 Tags
Green 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 Green List (high evidence)	SERPINC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thrombophilia due to antithrombin III deficiency MIM#613118 Tags
Green 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 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 Green List (high evidence)	SMARCAL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Schimke immunoosseous dysplasia MIM#242900 Tags
Green Green List (high evidence)	STIM1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Stormorken syndrome, MIM# 185070 Tags
Green Green List (high evidence)	TREX1	2 reviews 2 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 Green List (high evidence)	TTR	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Amyloidosis, hereditary, transthyretin-related, MIM# 105210 Tags
Green Green List (high evidence)	YY1AP1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Grange syndrome MIM#602531 Tags
Amber Amber List (moderate evidence)	ANO1	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Moyamoya disease 7, MIM# 620687 Tags
Amber Amber List (moderate evidence)	CST3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green Royal Melbourne Hospital Phenotypes Cerebral amyloid angiopathy, MIM# 105150 Tags founder
Amber Amber List (moderate evidence)	FLNA	2 reviews 1 green	Other	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Heterotopia, periventricular, 1 , MIM#300049 Melnick-Needles syndrome 30, MIM#9350 Tags
Amber Amber List (moderate evidence)	FOXM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Moyamoya disease MONDO:0016820 Tags
Red 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 Red List (low evidence)	NOS3	4 reviews 3 red	Unknown	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes {Ischemic stroke, susceptibility to} MIM#601367 Tags
Red 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 Red List (low evidence)	WFS1	3 reviews 2 green 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.

Stroke (Version 1.19)

21 reviewers

58 Entities

58 reviewed, 50 green

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