Familial hypercholesterolaemia

Gene: LDLRAP1

Green List (high evidence)

LDLRAP1 (low density lipoprotein receptor adaptor protein 1)
EnsemblGeneIds (GRCh38): ENSG00000157978
EnsemblGeneIds (GRCh37): ENSG00000157978
OMIM: 605747, Gene2Phenotype
LDLRAP1 is in 7 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Familial Hypercholesterolaemia reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 13.
Created: 19 Feb 2016, 2:48 p.m.

Ellen Thomas (Genomics England)

Green List (high evidence)

Rare but important recessive cause of severe hypercholesterolaemia
Created: 13 Dec 2015, 9:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

steve Humphries (UCL)

Green List (high evidence)

recessive mode of inheritance
Created: 24 Nov 2015, 4:40 p.m.

Mode of inheritance
Other

Phenotypes
hypercholesterolaemia; elevated LDL-Cholesterol

Publications

  • Molecular mechanisms of autosomal recessive hypercholesterolemia. Wilund KR, Yi M, Campagna F, Arca M, Zuliani G, Fellin R, Ho YK, Garcia JV, Hobbs HH, Cohen JC. Hum Mol Genet. 2002 Nov 15
  • 11(24):3019-30. PMID: 12417523

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypercholesterolemia, familial, autosomal recessive, 603813
  • Familial Hypercholesterolemia
  • Hypercholesterolemia
  • Familial Hypercholesterolaemia
OMIM
605747
Clinvar variants
Variants in LDLRAP1
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Oct 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LDLRAP1 was added to Familial hypercholesterolaemiapanel. Source: UKGTN

7 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

LDLRAP1 was added to Familial hypercholesterolaemiapanel. Source: Emory Genetics Laboratory

7 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal

7 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LDLRAP1 was added to Familial hypercholesterolaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LDLRAP1 was added to Familial hypercholesterolaemiapanel. Sources: Radboud University Medical Center, Nijmegen