Description
This panel is used for clinical indication 'R324 Lipoprotein lipase deficiency' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R324 Lipoprotein lipase deficiency'.

The content of this panel (version 1.3: https://panelapp.genomicsengland.co.uk/api/v1/panels/527/?version=1.3) was signed off under NHS Genomic Medicine Service governance on (15/10/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number. 

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

3 reviewers

  • Maggie Williams (North Bristol NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Julie Evans (South West Genomic Laboratory Hub)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

10 Entities

10 reviewed, 9 green

List Entity Reviews Mode of inheritance Details
10 Entitiess
Green Green List (high evidence)
APOA5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Hyperchylomicronemia, late-onset OMIM:144650
  • hyperlipoproteinemia type V MONDO:0007762
Tags
Green Green List (high evidence)
APOB
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypercholesterolemia, familial, 2 OMIM:144010
  • hypercholesterolemia, autosomal dominant, type B MONDO:0007751
  • Hypobetalipoproteinemia OMIM:615558
  • familial hypobetalipoproteinemia 1 MONDO:0014252
Tags
Green Green List (high evidence)
APOC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Hyperlipoproteinemia, type Ib OMIM:207750
Tags
Green Green List (high evidence)
APOE
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Hyperlipoproteinemia, type III OMIM:617347
  • hyperlipoproteinemia type 3 MONDO:0018473
  • Lipoprotein glomerulopathy OMIM:611771
  • lipoprotein glomerulopathy MONDO:0012725
Tags
Green Green List (high evidence)
CREB3L3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • hypertriglyceridemia (disease) MONDO:0005347
Tags
Green Green List (high evidence)
GPD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypertriglyceridemia, transient infantile OMIM:614480
  • transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771
Tags
Green Green List (high evidence)
GPIHBP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Hyperlipoproteinemia, type 1D OMIM:615947
  • hyperlipoproteinemia, type 1D MONDO:0014412
Tags
Green Green List (high evidence)
LMF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Lipase deficiency, combined OMIM:246650
  • lipase deficiency, combined MONDO:0009527
Tags
Green Green List (high evidence)
LPL
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Lipoprotein lipase deficiency OMIM:238600
  • familial lipoprotein lipase deficiency MONDO:0009387
  • Combined hyperlipidemia, familial OMIM:144250
  • hyperlipidemia, familial combined, LPL related MONDO:0007759
Tags
Red Red List (low evidence)
LIPI
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • hypertriglyceridemia (disease) MONDO:0005347
Tags

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