LBR
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LBR (HGNC:6518) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
lamin B receptor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
DHCR14B, TDRD18
%HI
28.92(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.97(Read more about gnomAD pLI score)
LOEUF
0.5(Read more about gnomAD LOEUF score)
Cytoband
1q42.12
Genomic Coordinates
GRCh37/hg19: chr1:225589204-225616523 NCBI Ensembl UCSC
GRCh38/hg38: chr1:225401502-225428821 NCBI Ensembl UCSC
MANE Select Transcript
NM_002296.4 ENST00000272163.9 (Read more about MANE Select)
Function
Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:9630650, PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29523
ClinGen Curation ID:
CCID:007391
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
02/23/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Mutations affecting both copies of LBR are associated with autosomal recessive Greenberg skeletal dysplasia (OMIM 215140). Heterozygous LBR mutations are associated with a benign white blood cell (granulocytic) morphologic phenotype, Pelger-Huet anomaly (PHA, OMIM 169400). There has been a single report of a missense variant in this gene in an individual with Reynolds syndrome, but the authors propose that the variant resulted in a dominant negative effect (PMID: 20522425).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)