Description
This is a place-holder for a new gene panel that is currently in progress. Relevant genes can be added to the panel by reviewers, or if you have a gene list please contact panelapp@genomicsengland.co.uk. 

Eligibility statement for Severe hypertriglyceridaemia:

Severe hypertriglyceridaemia inclusion criteria (42186)
Triglycerides >20mmol/L 
AND one of 
Asymptomatic, OR
Acute pancreatitis event, OR
Eruptive xanthomata

Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.

In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Severe hypertriglyceridaemia exclusion criteria (42186)
Excess alcohol intake ( >30 units/week) 
Uncontrolled diabetes ( HbA1c >8%) 
Known lipodystrophy syndrome- genetic or acquired 
Known mitochondrial myopathy 
Use of anti-retroviral drug therapies

Prior genetic testing guidance (42186)
- 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.

Severe hypertriglyceridaemia prior genetic testing genes (42186)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
LPL, APOA5, APOC2, GPIHBP1, LMF1

Closing statement (42186)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • steve Humphries (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

7 genes

7 reviewed, 5 green

List Gene Reviews Mode of inheritance Details
7 genes
Green Green List (high evidence)
APOA5
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
Phenotypes
  • Hyperchylomicronemia, late-onset 144650
  • {Hypertriglyceridemia, susceptibility to} 145750
Green Green List (high evidence)
APOC2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hyperlipoproteinemia, type Ib 207750
Green Green List (high evidence)
GPD1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypertriglyceridemia, transient infantile, 614480
Green Green List (high evidence)
GPIHBP1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Hyperlipoproteinemia, type 1D, 615947
Green Green List (high evidence)
LPL
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Combined hyperlipidemia, familial 144250
  • Lipoprotein lipase deficiency, 238600
Red Red List (low evidence)
CELSR2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • hypertriglyceridaemia
Red Red List (low evidence)
LMF1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Lipase deficiency, combined, 246650

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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