Description
This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

The content of this panel is overseen by NHS Genomic Medicine Service governance.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rhea Tan (University of Cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

16 Entities

16 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
16 Entitiess
Green Green List (high evidence)
ABCC6
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Pseudoxanthoma elasticum 264800 AR
  • Pseudoxanthoma elasticum, forme fruste 177850 AD
Tags
Green Green List (high evidence)
APP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Haemorrhagic stroke
  • stroke
  • ischaemic stroke
  • leukoencephalopathy
  • seizures
  • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714
Tags
Green Green List (high evidence)
ATP1A2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebral small vessel disease
  • coma
  • encephalopathy
  • Migraine, familial basilar 602481
  • Migraine, familial hemiplegic, 2 602481
Tags
Green Green List (high evidence)
CACNA1A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Episodic ataxia, type 2 108500
  • Migraine, familial hemiplegic, 1 141500 AD
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500
  • Spinocerebellar ataxia 6 183086
Tags
Green Green List (high evidence)
COL3A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • stroke
  • ischemic stroke
  • haemorrhagic stroke
  • dissection
  • vertebral artery dissection
  • Ehlers-Danlos syndrome, type IV 130050
Tags
Green Green List (high evidence)
COL4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebral Small Vessel Disease
  • stroke
  • migraine
  • Axenfeld-Rieger Anomaly
  • cognitive impairment
  • dementia
  • seizures
  • myopathy
  • infantile hemiparesis
  • developmental delay
  • Porencephaly 1 175780
  • {Hemorrhage, intracerebral, susceptibility to} 614519
Tags
Green Green List (high evidence)
COL4A2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • porencephaly
  • infantile heiparesis, intracerebral haemorrhages
  • Porencephaly 2 614483
  • {Hemorrhage, intracerebral, susceptibility to} 614519
Tags
Green Green List (high evidence)
FOXC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Stroke
  • Dandy Walker Syndrome
  • Hearing Impairment
  • Axenfeld-Rieger syndrome, type 3, Rieger or Axenfeld anomalies 602482
  • Iridogoniodysgenesis, type 1, Iris hypoplasia and glaucoma 601631
Tags
Green Green List (high evidence)
GLA
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebral Small Vessel Disease
  • Stroke
  • Ischemic Stroke
  • haemorrhagic stroke
  • Fabry disease, Fabry disease, cardiac variant 301500
Tags
Green Green List (high evidence)
HTRA1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebral small vessel disease
  • strokes, dementia
  • cognitive impairment
  • psychiatric disturbance
  • alopecia
  • degenerative disc disease
  • CARASIL syndrome 600142 AR
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
Tags
Green Green List (high evidence)
NOTCH3
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
  • UKGTN
Phenotypes
  • Migraine
  • Encephalopathy
  • Stroke
  • Cognitive impairment
  • Dementia
  • Seizures
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310
Tags
Green Green List (high evidence)
TREX1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • retinal vasculopathy with cerebral leukodystrophy
  • cerebroretinal vasculopathy
  • hereditary endotheliopathy, retinopathy, nephropathy and stroke
  • stroke, hereditary vascular retinopathy
  • retinopathy
  • nephropathy
  • Aicardi-Goutieres syndrome 1, dominant and recessive 225750 AR, AD
  • Vasculopathy, retinal, with cerebral leukodystrophy 192315 AD
Tags
Red Red List (low evidence)
CST3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stroke
  • haemorrhagic stroke
  • dementia
  • Cerebral amyloid angiopathy 105150
Tags
  • founder-effect
  • watchlist
Red Red List (low evidence)
FOXF2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Small vessel stroke
Tags
Red Red List (low evidence)
ITM2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ischaemic stroke
  • haemorrhagic stroke
  • stroke
  • spastic tetraparesis
  • tetraparesis
  • ementia, familial British 176500
  • Dementia, familial Danish 117300
Tags
Red Red List (low evidence)
SCN1A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebral small vessel disease
  • Dravet syndrome 607208
  • Epilepsy, generalized, with febrile seizures plus, type 2 604403
  • Febrile seizures, familial, 3A 604403
  • Migraine, familial hemiplegic, 3 609634
Tags

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