• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LARGE1 (HGNC:6511) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
LARGE xylosyl- and glucuronyltransferase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LARGE
Alias symbols
KIAA0609
%HI
4.11(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.99(Read more about gnomAD pLI score)
LOEUF
0.3(Read more about gnomAD LOEUF score)
Cytoband
22q12.3
Genomic Coordinates
GRCh37/hg19: chr22:33668495-34318812 NCBI Ensembl UCSC
GRCh38/hg38: chr22:33066663-33922824 NCBI Ensembl UCSC
MANE Select Transcript
NM_133642.5 ENST00000397394.8 (Read more about MANE Select)
Function
Bifunctional glycosyltransferase with both alpha-1,3- xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain- containing extracellular proteins with high affinity (PubMed:22223806, PubMed:15752776, PubMed:15661757, PubMed:25279699, PubMed:25279697, PubMed:23125099, PubMed:21987822). Elongates the glucuronyl-beta-1,4- xylose-beta disaccharide primer structure initiat... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24997
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • muscular dystrophy-dystroglycanopathy Monarch
HI Evidence Comments:
Biallelic variants in the LARGE1 gene have been associated with the diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 and Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6 in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, muscular dystrophy-dystroglycanopathy MONDO:0018276, has been selected for this curation.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)