Home > Gene Browser > LDLR

LDLR

Synonyms
FH, FHC, FHCL1, LDLCQ2
External resources
Summary
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
96
Likely pathogenic
48
VUS
4,488
Likely benign
7,728
Benign
513

Patient phenotypes

Proportions of phenotypes among 140 patients carrying pathogenic or likely pathogenic variants on LDLR gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.6%
Abnormality of the musculoskeletal system
23.6%
Abnormality of the cardiovascular system
17.1%
Abnormality of head or neck
16.4%
Abnormality of the eye
15%
Abnormality of the genitourinary system
11.4%
Growth abnormality
11.4%
Abnormality of the ear
10%
Abnormality of the integument
9.3%
Abnormality of the digestive system
6.4%
Abnormality of blood and blood-forming tissues
5.7%
Abnormality of the endocrine system
5.7%
Abnormality of the immune system
5.7%
Abnormality of limbs
5%
Abnormality of the respiratory system
4.3%
Abnormality of prenatal development or birth
3.6%
Neoplasm
2.9%
Constitutional symptom
0.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes