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 is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

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.

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/527/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (13/08/2019).

This panel will continue to be curated. 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 for the GMS panels.

2 reviewers

  • Maggie Williams (North Bristol NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

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 144650
Tags
Green Green List (high evidence)
APOB
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypercholesterolemia, familial, 2 144010
  • Hypobetalipoproteinemia 615558
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 207750
Tags
Green Green List (high evidence)
APOE
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Sea-blue histiocyte disease 269600
  • Hyperlipoproteinemia, type III 617347
  • Lipoprotein glomerulopathy 611771
  • Alzheimer disease-2 104310
Tags
Green Green List (high evidence)
CREB3L3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • monogenic dominant hypertriglyceridemia associated with CREB3L3
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 614480
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 615947
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 246650
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 238600
  • Combined hyperlipidemia, familial 144250
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
Tags

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