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Stroke v1.16 NIT1 Ain Roesley Marked gene: NIT1 as ready
Stroke v1.16 NIT1 Ain Roesley Gene: nit1 has been classified as Green List (High Evidence).
Stroke v1.16 NIT1 Ain Roesley Classified gene: NIT1 as Green List (high evidence)
Stroke v1.16 NIT1 Ain Roesley Gene: nit1 has been classified as Green List (High Evidence).
Stroke v1.15 NIT1 Paul De Fazio gene: NIT1 was added
gene: NIT1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: NIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIT1 were set to 38430071
Phenotypes for gene: NIT1 were set to Cerebrovascular disorder, NIT1-related (MONDO:0011057)
Penetrance for gene: NIT1 were set to unknown
Review for gene: NIT1 was set to GREEN
gene: NIT1 was marked as current diagnostic
Added comment: 5 unrelated families reported with recessively inherited cerebral small vessel disease had compound hetereozygous or homozygous variants in NIT1. 1 family (3 siblings) had p.(Ala68*) in trans with p.(Arg243Trp), the remaining 4 families (1 individual each) were all homozygous for p.(Arg243Trp).

Patients presented in mid-adulthood with progressive movement disorders (e.g. dystonia, chorea, bradykinesia and tremor, gait disturbance, dysarthria) and had abnormal brain MRI findings. 3 patients had non-lobar intracerebral hemorrhage. Metabolic analysis in urine confirmed loss of NIT1 enzymatic function.

Note p.(Arg243Trp) has 1 homozygote in gnomAD v4, but permitted due to later presentation in reported patients.
Sources: Literature
Stroke v1.15 ANO1 Zornitza Stark Phenotypes for gene: ANO1 were changed from moyamoya; cerebral arteriopathy; stroke; MONDO:0016820 to Moyamoya disease 7, MIM# 620687
Stroke v1.14 ANO1 Zornitza Stark reviewed gene: ANO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Moyamoya disease 7, MIM# 620687; Mode of inheritance: None
Stroke v1.14 JAM3 Zornitza Stark Marked gene: JAM3 as ready
Stroke v1.14 JAM3 Zornitza Stark Gene: jam3 has been classified as Green List (High Evidence).
Stroke v1.14 JAM3 Zornitza Stark Classified gene: JAM3 as Green List (high evidence)
Stroke v1.14 JAM3 Zornitza Stark Gene: jam3 has been classified as Green List (High Evidence).
Stroke v1.13 JAM3 Zornitza Stark gene: JAM3 was added
gene: JAM3 was added to Stroke. Sources: Expert Review
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM3 were set to 23255084; 21109224
Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730
Review for gene: JAM3 was set to GREEN
Added comment: Autosomal recessive disorder with a distinctive phenotype comprising haemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy.

Four unrelated families reported.
Sources: Expert Review
Stroke v1.12 RNF213 Seb Lunke Marked gene: RNF213 as ready
Stroke v1.12 RNF213 Seb Lunke Gene: rnf213 has been classified as Green List (High Evidence).
Stroke v1.12 RNF213 Seb Lunke Classified gene: RNF213 as Green List (high evidence)
Stroke v1.12 RNF213 Seb Lunke Gene: rnf213 has been classified as Green List (High Evidence).
Stroke v1.11 RNF213 Seb Lunke gene: RNF213 was added
gene: RNF213 was added to Stroke. Sources: Literature
Mode of inheritance for gene: RNF213 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF213 were set to 37924258
Phenotypes for gene: RNF213 were set to Moyamoya disease, MONDO:0016820; pediatric arterial ischemic stroke, MONDO:0018585
Review for gene: RNF213 was set to GREEN
Added comment: 14 individuals from 13 unrelated families with (de novo) missensevariants in RNF213 clustering within or around the RING domain. Individuals presented either with early-onset stroke (n=11) or with Leigh syndrome like symptoms (n=3). No genotype-phenotype correlation could be established. Common features included Global Developmental Delay and Seizures, increased serum lactate, ischemic stroke, and carotid/cerebral artery stenosis. Onset of symptoms generally in the first 6 months of life. Moyamoya phenomenon was present in 10/13 individuals.
Sources: Literature
Stroke v1.10 ANO1 Krithika Murali Marked gene: ANO1 as ready
Stroke v1.10 ANO1 Krithika Murali Gene: ano1 has been classified as Amber List (Moderate Evidence).
Stroke v1.10 ANO1 Krithika Murali Classified gene: ANO1 as Amber List (moderate evidence)
Stroke v1.10 ANO1 Krithika Murali Gene: ano1 has been classified as Amber List (Moderate Evidence).
Stroke v1.9 ANO1 Krithika Murali Classified gene: ANO1 as Amber List (moderate evidence)
Stroke v1.9 ANO1 Krithika Murali Added comment: Comment on list classification: Conflicting functional studies, mechanistic uncertainty, high gnomAD frequency for some variants and incomplete penetrance in family pedigrees noted favouring Amber classification until further supportive evidence available.
Stroke v1.9 ANO1 Krithika Murali Gene: ano1 has been classified as Amber List (Moderate Evidence).
Stroke v1.8 ANO1 Suliman Khan changed review comment from: Sources: Literature; to: PMID: 37253099: screening analysis of Moyamoya disease (MMD) cohort revealed 8 patients with variants in the ANO1 gene. Two families had the same rare variant p.Met658Val in ANO1 gene. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation.
Stroke v1.8 ANO1 Suliman Khan gene: ANO1 was added
gene: ANO1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: ANO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANO1 were set to PMID: 37253099
Phenotypes for gene: ANO1 were set to moyamoya; cerebral arteriopathy; stroke; MONDO:0016820
Penetrance for gene: ANO1 were set to unknown
Review for gene: ANO1 was set to AMBER
Added comment: Sources: Literature
Stroke v1.8 Zornitza Stark HPO terms changed from to Stroke, HP:0001297
List of related panels changed from to Stroke; HP:0001297
Stroke v1.7 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Stroke v1.7 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Stroke v1.7 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Stroke v1.7 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Stroke v1.7 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Stroke v1.7 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Stroke v1.7 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Stroke v1.7 ADAMTS13 Zornitza Stark Tag treatable tag was added to gene: ADAMTS13.
Stroke v1.7 TRIM47 Zornitza Stark Marked gene: TRIM47 as ready
Stroke v1.7 TRIM47 Zornitza Stark Gene: trim47 has been classified as Red List (Low Evidence).
Stroke v1.7 TRIM47 Zornitza Stark gene: TRIM47 was added
gene: TRIM47 was added to Stroke. Sources: Literature
Mode of inheritance for gene: TRIM47 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM47 were set to 35511193
Phenotypes for gene: TRIM47 were set to Genetic cerebral small vessel disease MONDO:0018787
Review for gene: TRIM47 was set to RED
Added comment: GWAS data:

Combined evidence from summary-based Mendelian randomization studies and profiling of human loss-of-function allele carriers showed an inverse relation between TRIM47 expression in the brain and blood vessels and extensive small vessel disease severity. Observed significant enrichment of Trim47 in isolated brain vessel preparations compared to total brain fraction in mice, in line with the literature showing Trim47 enrichment in brain endothelial cells at single cell level. Functional evaluation of TRIM47 by small interfering RNAs-mediated knockdown in human brain endothelial cells showed increased endothelial permeability, an important hallmark of cerebral small vessel disease pathology.
Sources: Literature
Stroke v1.6 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
Stroke v1.6 COLGALT1 Bryony Thompson Marked gene: COLGALT1 as ready
Stroke v1.6 COLGALT1 Bryony Thompson Gene: colgalt1 has been classified as Green List (High Evidence).
Stroke v1.6 COLGALT1 Bryony Thompson Classified gene: COLGALT1 as Green List (high evidence)
Stroke v1.6 COLGALT1 Bryony Thompson Gene: colgalt1 has been classified as Green List (High Evidence).
Stroke v1.5 COLGALT1 Bryony Thompson gene: COLGALT1 was added
gene: COLGALT1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLGALT1 were set to 30412317; 33709034; 31759980
Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3 MIM#618360
Review for gene: COLGALT1 was set to GREEN
Added comment: 3 unrelated cases with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy, lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. A null mouse model was embryonic lethal, but had defects in the vascular networks of the embryos
Sources: Literature
Stroke v1.4 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Stroke v1.4 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Stroke v1.4 PDGFRB Zornitza Stark Classified gene: PDGFRB as Green List (high evidence)
Stroke v1.4 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Stroke v1.3 PDGFRB Zornitza Stark Tag somatic tag was added to gene: PDGFRB.
Stroke v1.3 PDGFRB Natasha Brown gene: PDGFRB was added
gene: PDGFRB was added to Stroke. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to PMID: 33683022; 32291752
Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Mode of pathogenicity for gene: PDGFRB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PDGFRB was set to GREEN
Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Stroke v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Stroke v1.0 Zornitza Stark promoted panel to version 1.0
Stroke v0.101 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Stroke v0.101 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Stroke v0.101 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Stroke v0.101 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Stroke v0.101 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from Vasculopathy, retinal, with cerebral leukodystrophy to Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, MIM# 192315
Stroke v0.100 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, MIM# 192315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.100 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Stroke v0.100 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Stroke v0.100 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from Stormorken syndrome to Stormorken syndrome, MIM# 185070
Stroke v0.99 STIM1 Zornitza Stark reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stormorken syndrome, MIM# 185070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.99 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Stroke v0.99 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Stroke v0.99 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.99 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Stroke v0.99 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Green List (High Evidence).
Stroke v0.99 SLC2A10 Zornitza Stark Phenotypes for gene: SLC2A10 were changed from 208050; Moyamoya disease; Arterial tortuosity syndrome to Arterial tortuosity syndrome 208050; Moyamoya disease
Stroke v0.98 SLC2A10 Zornitza Stark reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.98 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Stroke v0.98 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Stroke v0.98 PROC Zornitza Stark Marked gene: PROC as ready
Stroke v0.98 PROC Zornitza Stark Gene: proc has been classified as Green List (High Evidence).
Stroke v0.98 POLG Zornitza Stark Marked gene: POLG as ready
Stroke v0.98 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Stroke v0.98 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to POLG-related MELAS
Stroke v0.97 POLG Zornitza Stark Publications for gene: POLG were set to
Stroke v0.96 POLG Zornitza Stark reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 31425757, 27838477; Phenotypes: POLG-related MELAS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.96 PDCD10 Zornitza Stark Marked gene: PDCD10 as ready
Stroke v0.96 PDCD10 Zornitza Stark Gene: pdcd10 has been classified as Green List (High Evidence).
Stroke v0.96 PCCB Zornitza Stark Marked gene: PCCB as ready
Stroke v0.96 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Stroke v0.96 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from to Propionicacidemia, MIM# 606054
Stroke v0.95 PCCA Zornitza Stark Marked gene: PCCA as ready
Stroke v0.95 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Stroke v0.95 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from to Propionicacidemia 606054
Stroke v0.94 OTC Zornitza Stark Marked gene: OTC as ready
Stroke v0.94 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Stroke v0.94 OTC Zornitza Stark Phenotypes for gene: OTC were changed from Ornithine carbamoyltransferase deficiency to Ornithine carbamoyltransferase deficiency, MIM# 311250
Stroke v0.93 OTC Zornitza Stark Publications for gene: OTC were set to
Stroke v0.92 OTC Zornitza Stark Mode of inheritance for gene: OTC was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Stroke v0.91 OTC Zornitza Stark edited their review of gene: OTC: Changed rating: GREEN
Stroke v0.91 OTC Zornitza Stark reviewed gene: OTC: Rating: ; Mode of pathogenicity: None; Publications: 32008222, 24850570, 23640148; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Stroke v0.91 NF1 Zornitza Stark Marked gene: NF1 as ready
Stroke v0.91 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Stroke v0.91 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Stroke v0.91 MYH11 Zornitza Stark Gene: myh11 has been classified as Red List (Low Evidence).
Stroke v0.91 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4 to Aortic aneurysm, familial thoracic 4, MIM# 132900
Stroke v0.90 MYH11 Zornitza Stark Classified gene: MYH11 as Red List (low evidence)
Stroke v0.90 MYH11 Zornitza Stark Gene: myh11 has been classified as Red List (Low Evidence).
Stroke v0.89 MYH11 Zornitza Stark reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.89 MUT Zornitza Stark Marked gene: MUT as ready
Stroke v0.89 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Stroke v0.89 MUT Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MIM# 251000
Stroke v0.88 MUT Zornitza Stark reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.88 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Stroke v0.88 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Stroke v0.88 HTRA1 Zornitza Stark Marked gene: HTRA1 as ready
Stroke v0.88 HTRA1 Zornitza Stark Gene: htra1 has been classified as Green List (High Evidence).
Stroke v0.88 HTRA1 Zornitza Stark Phenotypes for gene: HTRA1 were changed from Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 to CARASIL syndrome, MIM# 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779
Stroke v0.87 HTRA1 Zornitza Stark Publications for gene: HTRA1 were set to
Stroke v0.86 HTRA1 Zornitza Stark reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19387015, 26063658; Phenotypes: CARASIL syndrome, MIM# 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stroke v0.86 GLA Zornitza Stark Marked gene: GLA as ready
Stroke v0.86 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Stroke v0.86 GLA Zornitza Stark Phenotypes for gene: GLA were changed from Fabry disease to Fabry disease, MIM# 301500, MONDO:0010526
Stroke v0.85 GLA Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Stroke v0.85 FLNA Zornitza Stark Marked gene: FLNA as ready
Stroke v0.85 FLNA Zornitza Stark Gene: flna has been classified as Amber List (Moderate Evidence).
Stroke v0.85 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from Periventricular nodular heterotopia 1 to Heterotopia, periventricular, 1 , MIM#300049; Melnick-Needles syndrome 30, MIM#9350
Stroke v0.84 FLNA Zornitza Stark Publications for gene: FLNA were set to
Stroke v0.83 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other
Stroke v0.82 FLNA Zornitza Stark Classified gene: FLNA as Amber List (moderate evidence)
Stroke v0.82 FLNA Zornitza Stark Gene: flna has been classified as Amber List (Moderate Evidence).
Stroke v0.81 FLNA Zornitza Stark edited their review of gene: FLNA: Added comment: XLD. Stroke is said to be a feature of PVNH in OMIM but few documented reports found.; Changed rating: AMBER; Changed phenotypes: Heterotopia, periventricular, 1 , MIM#300049, Melnick-Needles syndrome 30, MIM#9350; Changed mode of inheritance: Other
Stroke v0.81 FLNA Zornitza Stark reviewed gene: FLNA: Rating: ; Mode of pathogenicity: None; Publications: 21031081; Phenotypes: ; Mode of inheritance: None
Stroke v0.81 ENG Zornitza Stark Marked gene: ENG as ready
Stroke v0.81 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Stroke v0.81 ENG Zornitza Stark reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.81 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Stroke v0.81 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Stroke v0.81 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage to Brain small vessel disease with or without ocular anomalies MIM#175780; Brain Small Vessel Disease with Hemorrhage
Stroke v0.80 COL4A1 Zornitza Stark edited their review of gene: COL4A1: Changed phenotypes: Brain small vessel disease with or without ocular anomalies MIM#175780, Brain Small Vessel Disease with Hemorrhage
Stroke v0.80 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.80 CST3 Zornitza Stark Tag founder tag was added to gene: CST3.
Stroke v0.80 CST3 Zornitza Stark Marked gene: CST3 as ready
Stroke v0.80 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Stroke v0.80 CST3 Zornitza Stark Phenotypes for gene: CST3 were changed from Hereditary cerebral amyloid angiopathy, Icelandic type, MIM#105150 to Cerebral amyloid angiopathy, MIM# 105150
Stroke v0.79 CST3 Zornitza Stark Phenotypes for gene: CST3 were changed from Hereditary cerebral amyloid angiopathy, Icelandic type to Hereditary cerebral amyloid angiopathy, Icelandic type, MIM#105150
Stroke v0.78 CST3 Zornitza Stark Publications for gene: CST3 were set to
Stroke v0.77 CST3 Zornitza Stark Classified gene: CST3 as Amber List (moderate evidence)
Stroke v0.77 CST3 Zornitza Stark Gene: cst3 has been classified as Amber List (Moderate Evidence).
Stroke v0.76 CST3 Zornitza Stark reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: None; Publications: 3495457; Phenotypes: Cerebral amyloid angiopathy, MIM# 105150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.76 TTR Zornitza Stark Marked gene: TTR as ready
Stroke v0.76 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Stroke v0.76 TTR Zornitza Stark Phenotypes for gene: TTR were changed from Amyloidogenic transthyretin amyloidosis to Amyloidosis, hereditary, transthyretin-related, MIM# 105210
Stroke v0.75 TTR Zornitza Stark Publications for gene: TTR were set to
Stroke v0.74 TTR Zornitza Stark reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 32789836, 12771253; Phenotypes: Amyloidosis, hereditary, transthyretin-related, MIM# 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.74 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Stroke v0.74 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
Stroke v0.74 WFS1 Zornitza Stark Classified gene: WFS1 as Red List (low evidence)
Stroke v0.74 WFS1 Zornitza Stark Gene: wfs1 has been classified as Red List (Low Evidence).
Stroke v0.73 YY1AP1 Zornitza Stark Marked gene: YY1AP1 as ready
Stroke v0.73 YY1AP1 Zornitza Stark Gene: yy1ap1 has been classified as Green List (High Evidence).
Stroke v0.73 YY1AP1 Zornitza Stark Publications for gene: YY1AP1 were set to 31633303; 30356112; 31270375; 22987684; 16691574
Stroke v0.72 CTSA Zornitza Stark Marked gene: CTSA as ready
Stroke v0.72 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Stroke v0.72 CTSA Zornitza Stark Publications for gene: CTSA were set to 27664989; 31177426; 23175731
Stroke v0.71 CTSA Zornitza Stark Tag founder tag was added to gene: CTSA.
Stroke v0.71 CTSA Zornitza Stark Classified gene: CTSA as Green List (high evidence)
Stroke v0.71 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Stroke v0.70 CTSA Zornitza Stark changed review comment from: 19 individuals reported, but single founder variant, c.973C>T; p.R325C.

Bi-allelic variants in this gene are associated with galactosialidosis.; to: Borderline Green/Amber. 19 individuals reported, but single founder variant, c.973C>T; p.R325C.

Bi-allelic variants in this gene are associated with galactosialidosis.
Stroke v0.70 CTSA Zornitza Stark edited their review of gene: CTSA: Changed rating: GREEN
Stroke v0.70 CTSA Zornitza Stark reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: None; Publications: 32842921, 31177426; Phenotypes: Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.70 TTR Natasha Brown reviewed gene: TTR: Rating: ; Mode of pathogenicity: None; Publications: PMID: 32789836, 12771253; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.70 WFS1 Natasha Brown reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Stroke v0.70 YY1AP1 Natasha Brown reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31270375, 31633303, 27939641, 30556293; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.70 CTSA Natasha Brown reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32842921, 31177426; Phenotypes: cerebral microangiopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.70 HBB Zornitza Stark Marked gene: HBB as ready
Stroke v0.70 HBB Zornitza Stark Gene: hbb has been classified as Green List (High Evidence).
Stroke v0.70 HBB Zornitza Stark Tag SV/CNV tag was added to gene: HBB.
Stroke v0.70 ABCA1 Zornitza Stark Marked gene: ABCA1 as ready
Stroke v0.70 ABCA1 Zornitza Stark Gene: abca1 has been classified as Green List (High Evidence).
Stroke v0.70 NOS3 Zornitza Stark Marked gene: NOS3 as ready
Stroke v0.70 NOS3 Zornitza Stark Gene: nos3 has been classified as Red List (Low Evidence).
Stroke v0.70 NOS3 Zornitza Stark Phenotypes for gene: NOS3 were changed from to {Ischemic stroke, susceptibility to} MIM#601367
Stroke v0.69 NOS3 Zornitza Stark Publications for gene: NOS3 were set to
Stroke v0.68 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Stroke v0.68 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Stroke v0.68 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from Citrullinemia type to Citrullinemia, MIM# 215700
Stroke v0.67 ASS1 Zornitza Stark reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, MIM# 215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.67 APP Zornitza Stark Marked gene: APP as ready
Stroke v0.67 APP Zornitza Stark Gene: app has been classified as Green List (High Evidence).
Stroke v0.67 APP Zornitza Stark Phenotypes for gene: APP were changed from Cerebral amyloid angiopathy, APP-related to Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714; Cerebral amyloid angiopathy, APP-related
Stroke v0.66 APP Zornitza Stark Publications for gene: APP were set to
Stroke v0.65 APP Zornitza Stark reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16178030, 11409420, 16612981; Phenotypes: Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.65 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Stroke v0.65 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
Stroke v0.65 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from Polyarteritis nodosa; Sneddon syndrome 182410 to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688
Stroke v0.64 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
Stroke v0.63 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32892503; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.63 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Stroke v0.63 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Stroke v0.63 ACVRL1 Zornitza Stark Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Stroke v0.62 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.62 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Stroke v0.62 ACTA2 Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence).
Stroke v0.62 ACAD9 Zornitza Stark changed review comment from: Well established gene-disease association, stroke, especially cerebellar stroke reported.; to: Well established gene-disease association, cerebellar stroke reported.
Stroke v0.62 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Stroke v0.62 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Stroke v0.62 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from Acyl-CoA dehydrogenase family, member 9, deficiency of to Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Stroke v0.61 NOS3 Natasha Brown reviewed gene: NOS3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24986538, 28084234; Phenotypes: ; Mode of inheritance: Unknown
Stroke v0.61 ACAD9 Zornitza Stark Publications for gene: ACAD9 were set to
Stroke v0.60 ACAD9 Zornitza Stark edited their review of gene: ACAD9: Changed publications: 17564966
Stroke v0.60 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.60 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Stroke v0.60 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Stroke v0.60 ABCC6 Zornitza Stark Phenotypes for gene: ABCC6 were changed from Pseudoxanthoma elasticum, forme fruste to Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM# 177850
Stroke v0.59 ABCC6 Zornitza Stark Mode of inheritance for gene: ABCC6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stroke v0.58 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudoxanthoma elasticum, MIM# 264800, Pseudoxanthoma elasticum, forme fruste, MIM# 177850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Stroke v0.57 Zornitza Stark Panel name changed from Stroke_Adult to Stroke
Stroke v0.56 Zornitza Stark Panel name changed from Stroke to Stroke_Adult
Stroke v0.55 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
Stroke v0.55 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Green List (High Evidence).
Stroke v0.55 NOTCH3 Zornitza Stark Publications for gene: NOTCH3 were set to
Stroke v0.54 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31960911; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Stroke v0.54 YY1AP1 Bryony Thompson Classified gene: YY1AP1 as Green List (high evidence)
Stroke v0.54 YY1AP1 Bryony Thompson Gene: yy1ap1 has been classified as Green List (High Evidence).
Stroke v0.53 YY1AP1 Bryony Thompson gene: YY1AP1 was added
gene: YY1AP1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YY1AP1 were set to 31633303; 30356112; 31270375; 22987684; 16691574
Phenotypes for gene: YY1AP1 were set to Grange syndrome MIM#602531
Review for gene: YY1AP1 was set to GREEN
Added comment: At least 3 cases reported with early-onset stroke
Sources: Literature
Stroke v0.52 SMARCAL1 Bryony Thompson Classified gene: SMARCAL1 as Green List (high evidence)
Stroke v0.52 SMARCAL1 Bryony Thompson Gene: smarcal1 has been classified as Green List (High Evidence).
Stroke v0.51 SMARCAL1 Bryony Thompson gene: SMARCAL1 was added
gene: SMARCAL1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCAL1 were set to 16840568; 9674900; 30356112; 30026777; 20301550
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia MIM#242900
Review for gene: SMARCAL1 was set to GREEN
Added comment: Moyamoya type strokes or cerebral ischaemic attacks have been reported as features of the condition.
Sources: Literature
Stroke v0.50 SERPINC1 Bryony Thompson Marked gene: SERPINC1 as ready
Stroke v0.50 SERPINC1 Bryony Thompson Gene: serpinc1 has been classified as Green List (High Evidence).
Stroke v0.50 SERPINC1 Bryony Thompson Classified gene: SERPINC1 as Green List (high evidence)
Stroke v0.50 SERPINC1 Bryony Thompson Gene: serpinc1 has been classified as Green List (High Evidence).
Stroke v0.49 SERPINC1 Bryony Thompson gene: SERPINC1 was added
gene: SERPINC1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: SERPINC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINC1 were set to 31359133; 30356112; 23910795
Phenotypes for gene: SERPINC1 were set to Thrombophilia due to antithrombin III deficiency MIM#613118
Review for gene: SERPINC1 was set to GREEN
Added comment: There is a high incidence of stroke in the condition.
Sources: Literature
Stroke v0.48 SCN5A Bryony Thompson Classified gene: SCN5A as Green List (high evidence)
Stroke v0.48 SCN5A Bryony Thompson Gene: scn5a has been classified as Green List (High Evidence).
Stroke v0.47 SCN5A Bryony Thompson gene: SCN5A was added
gene: SCN5A was added to Stroke. Sources: Literature
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN5A were set to 30356112; 29579189; 28294644; 16684018
Phenotypes for gene: SCN5A were set to Atrial fibrillation, familial, 10 MIM#614022
Review for gene: SCN5A was set to GREEN
Added comment: Early onset stroke has been reported in at least 4 families.
Sources: Literature
Stroke v0.46 SAMHD1 Bryony Thompson Marked gene: SAMHD1 as ready
Stroke v0.46 SAMHD1 Bryony Thompson Gene: samhd1 has been classified as Green List (High Evidence).
Stroke v0.46 SAMHD1 Bryony Thompson Classified gene: SAMHD1 as Green List (high evidence)
Stroke v0.46 SAMHD1 Bryony Thompson Gene: samhd1 has been classified as Green List (High Evidence).
Stroke v0.45 SAMHD1 Bryony Thompson gene: SAMHD1 was added
gene: SAMHD1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMHD1 were set to 20842748; 21402907; 27051737; 25672750; 28289923
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5 MIM#612952
Review for gene: SAMHD1 was set to GREEN
Added comment: At least 4 families where early onset stroke has been reported and a zebrafish model.
Sources: Literature
Stroke v0.44 PROS1 Bryony Thompson Marked gene: PROS1 as ready
Stroke v0.44 PROS1 Bryony Thompson Gene: pros1 has been classified as Green List (High Evidence).
Stroke v0.44 PROS1 Bryony Thompson Classified gene: PROS1 as Green List (high evidence)
Stroke v0.44 PROS1 Bryony Thompson Gene: pros1 has been classified as Green List (High Evidence).
Stroke v0.43 PROS1 Bryony Thompson gene: PROS1 was added
gene: PROS1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: PROS1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PROS1 were set to 20484936; 25997409; 21172841; 19729839
Phenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency
Review for gene: PROS1 was set to GREEN
Added comment: At least 3 families reported with stroke and a supporting null mouse model.
Sources: Literature
Stroke v0.42 PROC Bryony Thompson Classified gene: PROC as Green List (high evidence)
Stroke v0.42 PROC Bryony Thompson Gene: proc has been classified as Green List (High Evidence).
Stroke v0.41 PROC Bryony Thompson gene: PROC was added
gene: PROC was added to Stroke. Sources: Literature
Mode of inheritance for gene: PROC was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PROC were set to 1511989; 20187890; 30356112; 32351850
Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency
Review for gene: PROC was set to GREEN
Added comment: PC deficiency is a cause for the development of stroke, particularly in young adults.
Sources: Literature
Stroke v0.40 PDE3A Bryony Thompson Marked gene: PDE3A as ready
Stroke v0.40 PDE3A Bryony Thompson Gene: pde3a has been classified as Green List (High Evidence).
Stroke v0.40 PDE3A Bryony Thompson Classified gene: PDE3A as Green List (high evidence)
Stroke v0.40 PDE3A Bryony Thompson Gene: pde3a has been classified as Green List (High Evidence).
Stroke v0.39 PDE3A Bryony Thompson gene: PDE3A was added
gene: PDE3A was added to Stroke. Sources: Literature
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 31589936; 25961942; 30356112
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome MIM#112410
Review for gene: PDE3A was set to GREEN
Added comment: Stroke is a prominent feature of the condition if left untreated.
Sources: Literature
Stroke v0.38 PDCD10 Bryony Thompson Classified gene: PDCD10 as Green List (high evidence)
Stroke v0.38 PDCD10 Bryony Thompson Gene: pdcd10 has been classified as Green List (High Evidence).
Stroke v0.37 PDCD10 Bryony Thompson gene: PDCD10 was added
gene: PDCD10 was added to Stroke. Sources: Literature
Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDCD10 were set to 30356112; 15543491
Phenotypes for gene: PDCD10 were set to Cerebral cavernous malformations 3 MIM#603285
Review for gene: PDCD10 was set to GREEN
Added comment: At least 7 families reported and stroke can be a feature of the condition.
Sources: Literature
Stroke v0.36 PCCB Bryony Thompson Classified gene: PCCB as Green List (high evidence)
Stroke v0.36 PCCB Bryony Thompson Gene: pccb has been classified as Green List (High Evidence).
Stroke v0.35 PCCB Bryony Thompson gene: PCCB was added
gene: PCCB was added to Stroke. Sources: Literature
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCB were set to 30356112; 7769171; 6497733; 30037889; 18986243
Review for gene: PCCB was set to GREEN
Added comment: Metabolic stroke can be a feature of the condition.
Sources: Literature
Stroke v0.34 PCCA Bryony Thompson Classified gene: PCCA as Green List (high evidence)
Stroke v0.34 PCCA Bryony Thompson Gene: pcca has been classified as Green List (High Evidence).
Stroke v0.33 PCCA Bryony Thompson gene: PCCA was added
gene: PCCA was added to Stroke. Sources: Literature
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 21986446; 18986243; 20142522
Review for gene: PCCA was set to GREEN
Added comment: Metabolic stroke can be a feature of the condition.
Sources: Literature
Stroke v0.32 NF1 Bryony Thompson Classified gene: NF1 as Green List (high evidence)
Stroke v0.32 NF1 Bryony Thompson Gene: nf1 has been classified as Green List (High Evidence).
Stroke v0.31 NF1 Bryony Thompson gene: NF1 was added
gene: NF1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 31080139; 30356112; 8157015; 31279841
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 MIM#162200
Review for gene: NF1 was set to GREEN
Added comment: Stroke can be a feature of the condition, with diolicoectasia, occlusion, and MoyaMoya-like subtypes reported.
Sources: Literature
Stroke v0.30 HBB Bryony Thompson Classified gene: HBB as Green List (high evidence)
Stroke v0.30 HBB Bryony Thompson Gene: hbb has been classified as Green List (High Evidence).
Stroke v0.29 HBB Bryony Thompson gene: HBB was added
gene: HBB was added to Stroke. Sources: Literature
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HBB were set to 30356112; 19589461; 7782612; 20301551
Phenotypes for gene: HBB were set to Sickle cell anemia MIM#603903
Review for gene: HBB was set to GREEN
Added comment: Stroke can be a feature of sickle cell anemia, with the following subtypes reported: large artery non-atherosclerosis aneurysms, venous thrombosis, and arterial thrombosis.
Sources: Literature
Stroke v0.28 GUCY1A3 Bryony Thompson Marked gene: GUCY1A3 as ready
Stroke v0.28 GUCY1A3 Bryony Thompson Gene: gucy1a3 has been classified as Green List (High Evidence).
Stroke v0.28 GUCY1A3 Bryony Thompson Classified gene: GUCY1A3 as Green List (high evidence)
Stroke v0.28 GUCY1A3 Bryony Thompson Gene: gucy1a3 has been classified as Green List (High Evidence).
Stroke v0.27 GUCY1A3 Bryony Thompson gene: GUCY1A3 was added
gene: GUCY1A3 was added to Stroke. Sources: Literature
Mode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUCY1A3 were set to 24581742; 26777256
Phenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia MIM#615750
Review for gene: GUCY1A3 was set to GREEN
Added comment: Ischaemic stroke has been reported in at least one individual from five families.
Sources: Literature
Stroke v0.26 FOXC1 Bryony Thompson Marked gene: FOXC1 as ready
Stroke v0.26 FOXC1 Bryony Thompson Gene: foxc1 has been classified as Green List (High Evidence).
Stroke v0.26 FOXC1 Bryony Thompson Classified gene: FOXC1 as Green List (high evidence)
Stroke v0.26 FOXC1 Bryony Thompson Gene: foxc1 has been classified as Green List (High Evidence).
Stroke v0.25 FOXC1 Bryony Thompson gene: FOXC1 was added
gene: FOXC1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC1 were set to 29751260; 31719132; 25250569
Phenotypes for gene: FOXC1 were set to Stroke; cerebral small-vessel disease
Review for gene: FOXC1 was set to GREEN
Added comment: >3 cases reported with stroke and a zebrafish model.
Sources: Literature
Stroke v0.24 CTSA Bryony Thompson Classified gene: CTSA as Amber List (moderate evidence)
Stroke v0.24 CTSA Bryony Thompson Gene: ctsa has been classified as Amber List (Moderate Evidence).
Stroke v0.23 CTSA Bryony Thompson gene: CTSA was added
gene: CTSA was added to Stroke. Sources: Literature
Mode of inheritance for gene: CTSA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTSA were set to 27664989; 31177426; 23175731
Phenotypes for gene: CTSA were set to Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL)
Review for gene: CTSA was set to AMBER
Added comment: Three families reported with the same variant (c.973C > T), and a study mapping the condition to 20q13, where CTSA is located, but no sequencing conducted.
Sources: Literature
Stroke v0.22 COL4A2 Bryony Thompson Marked gene: COL4A2 as ready
Stroke v0.22 COL4A2 Bryony Thompson Gene: col4a2 has been classified as Green List (High Evidence).
Stroke v0.22 COL4A2 Bryony Thompson Classified gene: COL4A2 as Green List (high evidence)
Stroke v0.22 COL4A2 Bryony Thompson Gene: col4a2 has been classified as Green List (High Evidence).
Stroke v0.21 COL4A2 Bryony Thompson gene: COL4A2 was added
gene: COL4A2 was added to Stroke. Sources: Literature
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A2 were set to 22209247; 30356112; 27794444
Review for gene: COL4A2 was set to GREEN
Added comment: At least 6 cases reported with intracerebral bleeding/stroke, and a mouse model with stroke.
Sources: Literature
Stroke v0.20 COL3A1 Bryony Thompson Marked gene: COL3A1 as ready
Stroke v0.20 COL3A1 Bryony Thompson Gene: col3a1 has been classified as Green List (High Evidence).
Stroke v0.20 COL3A1 Bryony Thompson Classified gene: COL3A1 as Green List (high evidence)
Stroke v0.20 COL3A1 Bryony Thompson Gene: col3a1 has been classified as Green List (High Evidence).
Stroke v0.19 COL3A1 Bryony Thompson gene: COL3A1 was added
gene: COL3A1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL3A1 were set to 30356112; 12786757; 31903434; 25355833
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type MIM#130050
Review for gene: COL3A1 was set to GREEN
Added comment: At least 4 cervical artery dissection cases with a heterozygous COL3A1 variant, which is a major cause of ischaemic stroke.
Sources: Literature
Stroke v0.18 CD59 Bryony Thompson Marked gene: CD59 as ready
Stroke v0.18 CD59 Bryony Thompson Gene: cd59 has been classified as Green List (High Evidence).
Stroke v0.18 CD59 Bryony Thompson Classified gene: CD59 as Green List (high evidence)
Stroke v0.18 CD59 Bryony Thompson Gene: cd59 has been classified as Green List (High Evidence).
Stroke v0.17 CD59 Bryony Thompson gene: CD59 was added
gene: CD59 was added to Stroke. Sources: Literature
Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD59 were set to 30356112; 28622911; 1699124; 25716358
Phenotypes for gene: CD59 were set to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy MIM#612300
Review for gene: CD59 was set to GREEN
Added comment: Recurrent strokes have been reported in at least 6 cases, with an arterial thrombosis stroke subtype. Condition is paediatric onset.
Sources: Literature
Stroke v0.16 KRIT1 Bryony Thompson Marked gene: KRIT1 as ready
Stroke v0.16 KRIT1 Bryony Thompson Gene: krit1 has been classified as Green List (High Evidence).
Stroke v0.16 KRIT1 Bryony Thompson Classified gene: KRIT1 as Green List (high evidence)
Stroke v0.16 KRIT1 Bryony Thompson Gene: krit1 has been classified as Green List (High Evidence).
Stroke v0.15 KRIT1 Bryony Thompson gene: KRIT1 was added
gene: KRIT1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRIT1 were set to 30356112; 14755725; 11310633; 9811928
Phenotypes for gene: KRIT1 were set to 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
Review for gene: KRIT1 was set to GREEN
Added comment: Cases reported with intracerebral bleeding and cavernoma stroke subtypes.
Sources: Literature
Stroke v0.14 CBS Bryony Thompson Marked gene: CBS as ready
Stroke v0.14 CBS Bryony Thompson Gene: cbs has been classified as Green List (High Evidence).
Stroke v0.14 CBS Bryony Thompson Classified gene: CBS as Green List (high evidence)
Stroke v0.14 CBS Bryony Thompson Gene: cbs has been classified as Green List (High Evidence).
Stroke v0.13 CBS Bryony Thompson gene: CBS was added
gene: CBS was added to Stroke. Sources: Literature
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 30356112; 20142522; 12552044
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; Thrombosis, hyperhomocysteinemic MIM#236200
Review for gene: CBS was set to GREEN
Added comment: Large artery atherosclerosis/non-atherosclerosis, small-vessel disease, venous thrombosis, and arterial thrombosis stroke subtypes have been reported in the condition.
Sources: Literature
Stroke v0.12 CCM2 Bryony Thompson Marked gene: CCM2 as ready
Stroke v0.12 CCM2 Bryony Thompson Gene: ccm2 has been classified as Green List (High Evidence).
Stroke v0.12 CCM2 Bryony Thompson Classified gene: CCM2 as Green List (high evidence)
Stroke v0.12 CCM2 Bryony Thompson Gene: ccm2 has been classified as Green List (High Evidence).
Stroke v0.11 CCM2 Bryony Thompson gene: CCM2 was added
gene: CCM2 was added to Stroke. Sources: Literature
Mode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCM2 were set to 14624391; 18779516; 30356112
Phenotypes for gene: CCM2 were set to Cerebral cavernous malformations-2 MIM#603284
Review for gene: CCM2 was set to GREEN
Added comment: Cases reported with intracerebral bleeding and cavernoma stroke subtypes.
Sources: Literature
Stroke v0.10 ADAMTS13 Bryony Thompson Marked gene: ADAMTS13 as ready
Stroke v0.10 ADAMTS13 Bryony Thompson Gene: adamts13 has been classified as Green List (High Evidence).
Stroke v0.10 ADAMTS13 Bryony Thompson Classified gene: ADAMTS13 as Green List (high evidence)
Stroke v0.10 ADAMTS13 Bryony Thompson Gene: adamts13 has been classified as Green List (High Evidence).
Stroke v0.9 ADAMTS13 Bryony Thompson gene: ADAMTS13 was added
gene: ADAMTS13 was added to Stroke. Sources: Literature
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS13 were set to 32103696; 31585956; 30930238; 28591212
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary MIM#274150
Review for gene: ADAMTS13 was set to GREEN
Added comment: Strokes reported in at least 7 cases with the condition.
Sources: Literature
Stroke v0.8 ACTA2 Bryony Thompson Classified gene: ACTA2 as Green List (high evidence)
Stroke v0.8 ACTA2 Bryony Thompson Gene: acta2 has been classified as Green List (High Evidence).
Stroke v0.7 ACTA2 Bryony Thompson gene: ACTA2 was added
gene: ACTA2 was added to Stroke. Sources: Literature
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTA2 were set to 20734336; 19409525; 30356112
Phenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome MIM#613834
Review for gene: ACTA2 was set to GREEN
Added comment: Condition reported with large artery atherosclerosis/non-atherosclerosis, small vessel disease, and cardio embolism due to morphologic defect stroke subtypes.
Sources: Literature
Stroke v0.6 ABCA1 Bryony Thompson Classified gene: ABCA1 as Green List (high evidence)
Stroke v0.6 ABCA1 Bryony Thompson Gene: abca1 has been classified as Green List (High Evidence).
Stroke v0.5 ABCA1 Bryony Thompson gene: ABCA1 was added
gene: ABCA1 was added to Stroke. Sources: Literature
Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA1 were set to 30356112; 22913675; 30278532; 31487778
Phenotypes for gene: ABCA1 were set to Tangier disease MIM#205400
Review for gene: ABCA1 was set to GREEN
Added comment: Cases have been reported with large artery atherosclerosis, cardio embolism due to cardiomyopathy, intracerebral bleeding, and bleeding tendency stroke subtypes. Also a hamster model with ischemic stroke.
Sources: Literature
Stroke v0.4 NOS3 Bryony Thompson Classified gene: NOS3 as Red List (low evidence)
Stroke v0.4 NOS3 Bryony Thompson Gene: nos3 has been classified as Red List (Low Evidence).
Stroke v0.3 NOS3 Bryony Thompson reviewed gene: NOS3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Ischemic stroke, susceptibility to} MIM#601367; Mode of inheritance: Unknown
Stroke v0.3 MMACHC Bryony Thompson Classified gene: MMACHC as Green List (high evidence)
Stroke v0.3 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Stroke v0.2 MMACHC Bryony Thompson gene: MMACHC was added
gene: MMACHC was added to Stroke. Sources: Literature
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 12552044; 11742888; 30356112
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Review for gene: MMACHC was set to GREEN
Added comment: Large artery atherosclerosis, large artery non-atherosclerosis with dissections, coagulation pathology venous thrombosis, and coagulation pathology arterial thrombosis are stroke subtypes reported in this condition.
Sources: Literature
Stroke v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Stroke v0.0 NOS3 Bryony Thompson gene: NOS3 was added
gene: NOS3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NOS3 was set to Unknown
Stroke v0.0 MYH11 Bryony Thompson gene: MYH11 was added
gene: MYH11 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4
Stroke v0.0 MUT Bryony Thompson gene: MUT was added
gene: MUT was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Stroke v0.0 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease
Stroke v0.0 FLNA Bryony Thompson gene: FLNA was added
gene: FLNA was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FLNA were set to Periventricular nodular heterotopia 1
Stroke v0.0 WFS1 Bryony Thompson gene: WFS1 was added
gene: WFS1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Diabetes mellitus AND insipidus with optic atrophy AND deafness
Stroke v0.0 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to Amyloidogenic transthyretin amyloidosis
Stroke v0.0 TREX1 Bryony Thompson gene: TREX1 was added
gene: TREX1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TREX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TREX1 were set to Vasculopathy, retinal, with cerebral leukodystrophy
Stroke v0.0 STIM1 Bryony Thompson gene: STIM1 was added
gene: STIM1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STIM1 were set to Stormorken syndrome
Stroke v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Stroke v0.0 SLC2A10 Bryony Thompson gene: SLC2A10 was added
gene: SLC2A10 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to 208050; Moyamoya disease; Arterial tortuosity syndrome
Stroke v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Stroke v0.0 OTC Bryony Thompson gene: OTC was added
gene: OTC was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine carbamoyltransferase deficiency
Stroke v0.0 NOTCH3 Bryony Thompson gene: NOTCH3 was added
gene: NOTCH3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH3 were set to Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Stroke v0.0 HTRA1 Bryony Thompson gene: HTRA1 was added
gene: HTRA1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were set to Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
Stroke v0.0 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300
Stroke v0.0 CST3 Bryony Thompson gene: CST3 was added
gene: CST3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CST3 were set to Hereditary cerebral amyloid angiopathy, Icelandic type
Stroke v0.0 COL4A1 Bryony Thompson gene: COL4A1 was added
gene: COL4A1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A1 were set to Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage
Stroke v0.0 ASS1 Bryony Thompson gene: ASS1 was added
gene: ASS1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia type
Stroke v0.0 APP Bryony Thompson gene: APP was added
gene: APP was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APP were set to Cerebral amyloid angiopathy, APP-related
Stroke v0.0 ADA2 Bryony Thompson gene: ADA2 was added
gene: ADA2 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Polyarteritis nodosa; Sneddon syndrome 182410
Stroke v0.0 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376
Stroke v0.0 ACAD9 Bryony Thompson gene: ACAD9 was added
gene: ACAD9 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Acyl-CoA dehydrogenase family, member 9, deficiency of
Stroke v0.0 ABCC6 Bryony Thompson gene: ABCC6 was added
gene: ABCC6 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum, forme fruste
Stroke v0.0 Bryony Thompson Added panel Stroke