LRP4 Chromosome 11
LDL receptor related protein 4
Upload your DNA to see your personal genotypes for variants in LRP4.
What This Gene Does
This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Low density lipoprotein receptors
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000134569
Associated Conditions (11)
Cenani-Lenz syndactyly syndrome
Congenital myasthenic syndrome 17
Sclerosteosis 2
Inborn genetic diseases
LRP4-related disorder
Meniere disease
Intellectual disability
Epilepsy
Isolated hand syndactyly
Other rare neuromuscular disorders
Abnormality of the musculature
Key Variants
RS1011484252
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2
Health Risk
RS1190944217
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
RS137882536
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
Health Risk
RS138239756
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 17, Sclerosteosis 2, Cenani-Lenz syndactyly syndrome
Health Risk
RS138589242
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
RS138878258
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 17, Sclerosteosis 2, Cenani-Lenz syndactyly syndrome
Health Risk
RS1391979900
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
RS140186161
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
RS140757594
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
RS144169411
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2
Health Risk
RS144350829
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2
Health Risk
RS144974139
Conflicting classifications of pathogenicity
Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17
Health Risk
All Variants (91)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS752801557 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS758493823 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS759701000 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS760552036 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS761341366 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome, Sclerosteosis 2 |
| RS767492436 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS770051637 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome, Sclerosteosis 2 |
| RS771013783 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS776484311 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS886048351 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome |
| RS886048354 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS974667486 | Health Risk | Conflicting classifications of pathogenicity | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS1223476227 | Health Risk | Likely pathogenic | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS1479002757 | Health Risk | Likely pathogenic | Sclerosteosis 2, Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome |
| RS1940862694 | Health Risk | Likely pathogenic | Isolated hand syndactyly, Isolated hand syndactyly |
| RS1940965143 | Health Risk | Likely pathogenic | Isolated hand syndactyly, Isolated hand syndactyly |
| RS1941393359 | Health Risk | Likely pathogenic | Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome |
| RS1941502709 | Health Risk | Likely pathogenic | Sclerosteosis 2, Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome |
| RS1941543653 | Health Risk | Likely pathogenic | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS2539727043 | Health Risk | Likely pathogenic | — |
| RS2539729986 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome, Sclerosteosis 2 |
| RS2539741932 | Health Risk | Likely pathogenic | Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome |
| RS2539746175 | Health Risk | Likely pathogenic | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS267607222 | Health Risk | Likely pathogenic | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS747752349 | Health Risk | Likely pathogenic | LRP4-related disorder, LRP4-related disorder |
| RS762425885 | Health Risk | Likely pathogenic | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS1218582533 | Health Risk | Pathogenic | Sclerosteosis 2, Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17 |
| RS1565785959 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS1565790767 | Health Risk | Pathogenic | Sclerosteosis 2, Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17 |
| RS1565801326 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome |
| RS2134775125 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome |
| RS2539723743 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS2539749999 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS2539759435 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS267607220 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome |
| RS267607221 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome |
| RS267607223 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome |
| RS267607224 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome |
| RS758169152 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17, Sclerosteosis 2 |
| RS780336679 | Health Risk | Pathogenic | Cenani-Lenz syndactyly syndrome, Sclerosteosis 2, Congenital myasthenic syndrome 17 |
| RS1940998166 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the musculature, Abnormality of the musculature |