DYM
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DYM (HGNC:21317) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dymeclin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ20071, DMC, SMC
%HI
20.38(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.08(Read more about gnomAD LOEUF score)
Cytoband
18q21.1
Genomic Coordinates
GRCh37/hg19: chr18:46562757-46987015 NCBI Ensembl UCSC
GRCh38/hg38: chr18:49036387-49460645 NCBI Ensembl UCSC
MANE Select Transcript
NM_001353214.3 ENST00000675505.1 (Read more about MANE Select)
Function
Necessary for correct organization of Golgi apparatus. Involved in bone development. {ECO:0000269|PubMed:21280149}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20623
ClinGen Curation ID:
CCID:007041
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:
02/23/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Defects in DYM are the cause of Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMS), two similar rare autosomal recessive osteochondrodysplasias. Most mutations identified in DMC predict a loss of function, while those identified in SMC are mainly missense mutations, presumably associated with residual DYM activity and a less severe phenotype. Of note, Two small intragenic duplications in the DYM gene were detected in two seperate DMC kindreds. These were expected to result in a premature termination codon and the transcripts destroyed by nonsense mediated decay with subsequent failure to produce a protein product (PMID: 16326827).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No Literature Identified.

Genomic View

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