LOXHD1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LOXHD1 (HGNC:26521) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
lipoxygenase homology PLAT domains 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB77
Alias symbols
FLJ32670, LH2D1
%HI
33.62(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.9(Read more about gnomAD LOEUF score)
Cytoband
18q21.1
Genomic Coordinates
GRCh37/hg19: chr18:44056924-44237183 NCBI Ensembl UCSC
GRCh38/hg38: chr18:46476961-46657220 NCBI Ensembl UCSC
MANE Select Transcript
NM_001384474.1 ENST00000642948.1 (Read more about MANE Select)
Function
Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity). {ECO:0000250, ECO:0000269|PubMed:19732867}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33850
ClinGen Curation ID:
CCID:007413
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:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Deafness, autosomal recessive 77 Monarch
HI Evidence Comments:
Variation in LOXHD1 has been reported in individuals with autosomal recessive nonsyndromic deafness characterized by moderate to profound prelingual onset. Furthermore, the overall evidence that LOXHD1, when altered via biallelic loss of function, causes autosomal recessive nonsyndromic deafness was assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation. Of note: there are missense variants in LOXHD1 in HGMD that have been reported to cause Fuchs corneal dystrophy, however this phenotype wasn't assessed by the ClinGen Hearing Loss Gene Curation.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)