Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: DYM

Green List (high evidence)

DYM (dymeclin)
EnsemblGeneIds (GRCh38): ENSG00000141627
EnsemblGeneIds (GRCh37): ENSG00000141627
OMIM: 607461, Gene2Phenotype
DYM is in 7 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

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).
Created: 3 Jan 2025, 3:31 a.m. | Last Modified: 3 Jan 2025, 3:31 a.m.
Panel Version: 1.988

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyggve-Melchior-Clausen disease MIM#223800; Smith-McCort dysplasia MIM#607326

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Dyggve-Melchior-Clausen disease MIM#223800
  • Smith-McCort dysplasia MIM#607326
OMIM
607461
Clinvar variants
Variants in DYM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: dym has been classified as Green List (High Evidence).

3 Jan 2025, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: DYM were changed from Dyggve-Melchior-Clausen disease, 223800 (3) to Dyggve-Melchior-Clausen disease MIM#223800; Smith-McCort dysplasia MIM#607326

3 Jan 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: DYM were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Dyggve-Melchior-Clausen disease, 223800 (3) for gene: DYM

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DYM was added gene: DYM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800 (3)