LMBR1 |
- 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
- 1.38(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
ClinGen Curation ID:
CCID:007408
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:
- acheiropody Monarch
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)