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  2. Familial hypercholesterolaemia (GMS)
  3. LDLRAP1
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Familial hypercholesterolaemia (GMS)

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 5 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.
Created: 19 Feb 2016, 2:48 p.m.

Panel version: Imported from Familial hypercholesterolaemia panel version 0.71

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

Created: 13 Dec 2015, 9:39 p.m.

Panel version: Imported from Familial hypercholesterolaemia panel version 0

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

Created: 24 Nov 2015, 4:40 p.m.

Panel version: Imported from Familial hypercholesterolaemia panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypercholesterolemia, familial, 4, OMIM:603813
OMIM
605747
Clinvar variants
Variants in LDLRAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive; Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813 to Hypercholesterolemia, familial, 4, OMIM:603813

8 Oct 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: LDLRAP1 were changed from Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813 to Hypercholesterolemia, familial, autosomal recessive; Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813

7 Oct 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: LDLRAP1 was added gene: LDLRAP1 was added to Familial hypercholesterolaemia - targeted panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDLRAP1 were set to 12417523 Phenotypes for gene: LDLRAP1 were set to Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813