Description
Eligibility statement for Unexplained sudden death in the young (38566):

Unexplained sudden death in the young inclusion criteria (38569)
•	Sudden death at age less than or equal to 40 (including Sudden Infant Death Syndrome), AND
•	No diagnosis established on post mortem examination, AND
•	Absence of a pre-existing condition to explain the death.
•	Parents should be recruited under this category in paediatric cases if available
•	In adult cases the deceased individual should be recruited as a singleton; if surviving relatives have a phenotype which points to a particular condition, they should be the focus of further investigation or recruitment to the programme. 
•	Surviving relatives must be available to provide appropriate consent.

Unexplained sudden death in the young exclusion criteria (38569)
•	Death in the context of a known diagnosed disease or accident
•	Cause of death determined by post mortem examination
•	No post mortem examination carried out
•	No DNA or frozen tissue stored at post mortem.

Prior genetic testing guidance (38569)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Unexplained sudden death in the young prior genetic testing genes (38569)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 No genes listed

Closing statement (38569)
These requirements will be kept under continual review during the main programme and may be subject to change.

Rules for application of gene panels:

For patients equal to or under the age of 18 months, the following panels will also be applied:
• All metabolic panels
• Mitochondrial disorders

For all patients the following panels will also be applied:
• Long QT syndrome
• Arrhythmogenic Right Ventricular Cardiomyopathy
• Brugada Syndrome
• Hypertrophic Cardiomyopathy
• Catecholaminergic Polymorphic Ventricular Tachycardia
• Left Ventricular Noncompaction Cardiomyopathy
• Dilated cardiomyopathy

Note that the 'Familial Thoracic Aortic Aneurysm Disease' panel will not be applied, as these disorders or defects (including Loeys Dietz syndromes and Marfan Syndrome) should be identified during a post-mortem examination.

The 'Sudden death in young people' panel does not include genes that are green on one of the additional cardiac panels listed above. This panel also does not include genes associated with disorders or defects that would be identified in a post mortem examination.

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Bill Newman (Manchester Centre for Genomic Medicine)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

35 Entities

34 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
35 Entitiess
Green Green List (high evidence)
GLRA1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400
Tags
Green Green List (high evidence)
PHOX2B
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • sudden infant death syndrome
  • unclassified sudden infant death
  • USID
  • Congenital Central Hypoventilation Syndrome
  • CCHS
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
PPA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Unexpected cardiac arrest in infancy
Tags
Amber Amber List (moderate evidence)
KCNJ8
2 reviews
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • arrhythmia
  • Sudden infant death syndrome
  • ?Ventricular fibrillation
Tags
Red Red List (low evidence)
ASCL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Central hypoventilation syndrome, congenital, 209880
  • CCHS
Tags
Red Red List (low evidence)
BDNF
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Central hypoventilation syndrome, congenital, 209880
  • CCHS
Tags
Red Red List (low evidence)
CACNA2D1
2 reviews
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sudden death
  • cardiac arrhythmia
Tags
Red Red List (low evidence)
EDN3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Central hypoventilation syndrome, congenital, 209880
  • CCHS
Tags
Red Red List (low evidence)
GDNF
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Central hypoventilation syndrome, 209880
  • CCHS
Tags
Red Red List (low evidence)
KCND2
2 reviews
Unknown
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • J-wave syndrome with sudden cardiac death
  • sudden arrhythmic death
  • sudden cardiac arrest
Tags
Red Red List (low evidence)
KCND3
1 review
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Other
Phenotypes
  • sudden unexplained death
  • arrhythmia
  • sudden cardiac arrest
Tags
Red Red List (low evidence)
MAOA
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • sudden infant death syndrome
Tags
  • promoter
Red Red List (low evidence)
PPP1R13L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • cardio-cutaneous syndrome
  • sudden cardiac death
Tags
  • watchlist
Red Red List (low evidence)
RET
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Central hypoventilation syndrome, congenital, 209880
  • CCHS
Tags
Red Red List (low evidence)
SLC6A4
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Sudden infant death syndrome
Tags
Red Red List (low evidence)
TSPYL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sudden infant death with dysgenesis of the testes syndrome,608800
  • SIDDT
Tags
  • founder-effect
No list No list
AARS2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • early infantile cardiac failure
  • infantile mitochondrial cardiomyopathy
  • Combined Oxidative Phosphorylation Deficiency
  • Combined oxidative phosphorylation deficiency 8, 614096
  • fatal infantile hypertrophic mitochondrial cardiomyopathy
Tags
No list No list
ACADM
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Literature
Phenotypes
  • Medium chain acyl-CoA dehydrogenase deficiency
  • MCADD
  • MCAD deficiency-associated sudden death
  • sudden infant death syndrome
  • SIDS
Tags
No list No list
AKAP10
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • {Cardiac conduction defect, susceptibility to}, 115080
  • increased risk of sudden cardiac death
Tags
No list No list
AKAP9
1 review
Unknown
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Molecular autopsy
Tags
No list No list
AQP4
1 review
Unknown
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • sudden infant death syndrome
  • SIDS
Tags
No list No list
CAV3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Literature
  • Other
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 192600
  • Sudden death
  • sudden death in young subjects
  • Sudden Infant Death Syndrome
  • SIDS
  • Sudden Cardiac Arrest
  • Sudden Infant Death Syndrome
Tags
No list No list
CTNNA3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Removed
  • Other
Phenotypes
  • Arrhythmias
  • Arrhythmogenic right ventricular dysplasia, familial, 13, 615616
Tags
No list No list
FEV
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • SIDS
  • Sudden infant death syndrome
Tags
No list No list
IL10
1 review
Unknown
Sources
  • Expert Review Removed
  • Literature
Tags
  • promoter
No list No list
IL6
1 review
Unknown
Sources
  • Expert Review Removed
  • Literature
Tags
No list No list
MT-CYB
1 review
MITOCHONDRIAL
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • cardiomyopathy infantile histiocytoid, 500000
  • infantile cardiomyopathy with histiocytoid change
  • cardiac arrest
Tags
No list No list
MT-ND1
1 review
MITOCHONDRIAL
Sources
  • Expert Review Removed
  • Literature
  • Other
Phenotypes
  • Sudden infant death syndrome, 272120
  • SIDS
  • SIDS
  • sudden infant death syndrome, 272120,
Tags
No list No list
MT-TL1
1 review
MITOCHONDRIAL
Sources
  • Expert Review Removed
  • Literature
  • Other
Phenotypes
  • Sudden infant death syndrome, 272120
  • SIDS
  • SIDS
Tags
No list No list
MYLK2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Other
  • UKGTN
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, digenic, 192600
  • sudden death in young subjects
  • Molecular autopsy
  • Familial Hypertrophic Cardiomyopathy
  • HCM
Tags
No list No list
NKX2-5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Ventricular septal defect 3, 614432
  • sudden cardiac death
Tags
No list No list
RYR2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2, 600996
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772
Tags
No list No list
SCN4B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Molecular autopsy
  • Arrhythmia/Cardiac Arrest
  • Long QT syndrome
Tags
No list No list
SLC25A4
1 review
Not set
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Molecular autopsy
  • Familial Hypertrophic Cardiomyopathy
  • HCM
Tags
No list No list
TMPO
1 review
Not set
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Molecular autopsy
Tags

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