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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
02/23/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Greenberg dysplasia Monarch
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)