Description
This panel is used for clinical indication 'R134 Familial hypercholesterolaemia', and can also be applied as a virtual panel in the analysis of genome or exome data 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 'R134 Familial hypercholesterolaemia'.

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

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

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

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Ellen Thomas (Genomics England)

    Group: other
    Workplace: other

  • steve Humphries (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Simon Thomas (Wessex)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

43 Entities

43 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
43 Entitiess
Green Green List (high evidence)
ABCG5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Hypercholesterolemia
Tags
Green Green List (high evidence)
ABCG8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
  • Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015)
  • Hypercholesterolemia
Tags
Green Green List (high evidence)
APOB
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
  • Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015)
  • Ag linked Hypobetalipoproteinemia
  • Hypobetalipoproteinemia, normotriglyceridemic
  • Hypercholesterolemia, due to ligand-defective apo B, 144010
  • Familial Hypercholesterolemia
  • Hypercholesterolemia
  • Familial Hypercholesterolaemia
Tags
Green Green List (high evidence)
APOE
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Autosomal dominant hypercholesterolaemia
Tags
Green Green List (high evidence)
LDLR
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
  • Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015)
  • C3 Hypercholesterolemia, familial, 143890
  • LDL cholesterol level QTL2, 143890
  • Familial Hypercholesterolemia
  • Hypercholesterolemia
  • Familial Hypercholesterolaemia
Tags
Green Green List (high evidence)
LDLRAP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypercholesterolemia, familial, autosomal recessive, 603813
  • Familial Hypercholesterolemia
  • Hypercholesterolemia
  • Familial Hypercholesterolaemia
Tags
Green Green List (high evidence)
LIPA
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Hypercholesterolemia
  • Lysosomal acid lipase deficiency
Tags
Green Green List (high evidence)
PCSK9
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
  • Hypercholesterolemia, familial, 3, 603776
  • {Low density lipoprotein cholesterol level QTL 1}, 603776
  • Familial Hypercholesterolemia
  • Hypercholesterolemia
  • Familial Hypercholesterolaemia
Tags
Red Red List (low evidence)
ABCA1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tangier disease, 205400
  • HDL deficiency, type 2, 604091
  • {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
ACE
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Myocardial infarction, susceptibility to}
  • {Alzheimer disease, susceptibility to}, 104300
  • {Microvascular complications of diabetes 3}, 612624
  • [Angiotensin I-converting enzyme, benign serum increase]
  • {SARS, progression of}
  • Renal tubular
Tags
Red Red List (low evidence)
ANGPTL3
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
APOA1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
APOA2
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Apolipoprotein A-II deficiency {Hypercholesterolemia, familial, modification of}, 143890
Tags
Red Red List (low evidence)
APOA5
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hyperchylomicronemia, late-onset 144650
  • {Hypertriglyceridemia, susceptibility to} 145750
Tags
Red Red List (low evidence)
APOC2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Hyperlipoproteinemia, type Ib 207750
Tags
Red Red List (low evidence)
APOC3
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
CELSR2
1 review
1 red
Not set
Sources
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
  • Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015)
Tags
Red Red List (low evidence)
CETP
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
CYP27A1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
  • Cerebrotendinous Xanthomatosis
  • CEREBROTENDINOUS XANTHOMATOSIS
Tags
Red Red List (low evidence)
EPHX2
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypercholesterolemia, familial, due to LDLR defect, modifier of, 143890
Tags
Red Red List (low evidence)
ESR1
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Estrogen resistance, 615363
  • {HDL response to hormone replacement, augmented}
  • {Migraine, susceptibility to}, 157300
  • {Atherosclerosis, susceptibility to}
  • {Myocardial infarction, susceptibility to}, 608446
  • {Breast cancer}, 114480 (1)
  • {HDL response to hormone replacement, augmented}
  • {Migraine, susceptibility to}, 157300
  • {Atherosclerosis, susceptibility to}
  • {Myocardial infarction, susceptibility to}, 608446
  • {Breast cancer}, 114480 (1)
Tags
Red Red List (low evidence)
F13A1
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Factor XIIIA deficiency, 613225
  • {Myocardial infarction, protection against}, 608446
  • {Venous thrombosis, protection against}, 188050
  • {Myocardial infarction, protection against}, 608446
  • {Venous thrombosis, protection against}, 188050
Tags
Red Red List (low evidence)
F7
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Factor VII deficiency, 227500
  • {Myocardial infarction, decreased susceptibility to}, 608446
Tags
Red Red List (low evidence)
GCLC
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450
  • {Myocardial infarction, susceptibility to}, 608446
  • Myocardial infarction, susceptibility to, 608446
Tags
Red Red List (low evidence)
GCLM
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myocardial infarction, susceptibility to, 608446
Tags
Red Red List (low evidence)
GHR
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Laron dwarfism, 262500
  • Short stature, 604271
  • {Hypercholesterolemia, familial, modification of}, 143890
  • Increased responsiveness to growth hormone
Tags
Red Red List (low evidence)
GPD1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
GPIHBP1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
HFE
1 review
1 red
Not set
Sources
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
Tags
Red Red List (low evidence)
ITGB3
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • PL(A) platelet antigen Glanzmann thrombasthenia, 273800
  • Thrombocytopenia, neonatal alloimmune
  • {Myocardial infarction, susceptibility to}, 608446
  • Purpura, posttransfusion
  • Bleeding disorder, platelet-type, 16, autosomal dominant, 187800
Tags
Red Red List (low evidence)
LCAT
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
LIPC
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
LMF1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
LPL
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
MTTP
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
MYLIP
1 review
1 red
Not set
Sources
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
Tags
Red Red List (low evidence)
NYNRIN
1 review
1 red
Not set
Sources
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
Tags
Red Red List (low evidence)
SAR1B
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
SCARB1
1 review
1 red
Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Tags
Red Red List (low evidence)
SLC22A1
1 review
1 red
Not set
Sources
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
Tags
Red Red List (low evidence)
SREBF2
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Familial Hypercholesterolaemia
Tags
Red Red List (low evidence)
ST3GAL4
1 review
1 red
Not set
Sources
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
Tags
Red Red List (low evidence)
STAP1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • hypercholesterolemia
Tags

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