• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LMBR1 (HGNC:13243) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
limb development membrane protein 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C7orf2
Alias symbols
ACHP, FLJ11665, ZRS
%HI
24.09(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.83(Read more about gnomAD LOEUF score)
Cytoband
7q36.3
Genomic Coordinates
GRCh37/hg19: chr7:156461706-156685877 NCBI Ensembl UCSC
GRCh38/hg38: chr7:156669012-156893183 NCBI Ensembl UCSC
MANE Select Transcript
NM_022458.4 ENST00000353442.10 (Read more about MANE Select)
Function
Putative membrane receptor. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20469
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/18/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
While haploinsufficiency for LMBR1 has not been observed, a homozygous 4- to 6-kb intragenic LMBR1 deletion, predicted to result in a loss-of-function, is associated with the autosomal recessive condition, Acheiropodia [MIM #200500].

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
While the triplosensitivity score for LMBR1 is currently 0, a region contained within this gene has a triplosensitivity score of 3. It is recommended that any duplication involving LMBR1 be carefully evaluated in the context of clinical phenotype. See background information and linked ZRS region below. Background: The LMBR1 gene contains a regulatory element for the SHH gene, the ZRS, within intron 5. Gain-of-function type mutations involving the ZRS, including intragenic LMBR1 duplications, have been reported in association with autosomal dominant limb malformation phenotypes. As the pathogenic mechanism of ZRS duplication is still unclear, it is not known whether duplications encompassing the entire LMBR1 gene would result in similar phenotypes.

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)