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Fetal anomalies

Gene: DYM

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests. More than 5 untreated families reported.

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease.

The two conditions likely represent a spectrum rather than two distinct disorders.
Created: 6 Dec 2021, 10:02 a.m. | Last Modified: 6 Dec 2021, 10:05 a.m.
Panel Version: 0.1081

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 1 Dec 2019, 7:09 a.m.
Last Modified: 6 Dec 2021, 10:05 a.m.
Panel version: 0.1082

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Smith-McCort dysplasia , MM#607326
  • Dyggve-Melchior-Clausen disease, MIM#223800
OMIM
607461
Clinvar variants
Variants in DYM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DYM were changed from SMITH-MCCORT DYSPLASIA; DYGGVE-MELCHIOR-CLAUSEN SYNDROME to Smith-McCort dysplasia , MM#607326; Dyggve-Melchior-Clausen disease, MIM#223800

6 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DYM were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYM were set to SMITH-MCCORT DYSPLASIA; DYGGVE-MELCHIOR-CLAUSEN SYNDROME