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Inborn errors of metabolism

Gene: DYM

Green List (high evidence)

DYM (dymeclin)
EnsemblGeneIds (GRCh38): ENSG00000141627
EnsemblGeneIds (GRCh37): ENSG00000141627
OMIM: 607461, Gene2Phenotype
DYM is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The wrong phenotype is listed for this gene on this panel, it should be Dyggve-Melchior-Clausen disease 223800 and Smith-McCort dysplasia 607326
Created: 23 Aug 2016, 9:36 a.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
  • Dyggve-Melchior-Clausen disease, 223800
  • Smith-McCort dysplasia, 607326
OMIM
607461
Clinvar variants
Variants in DYM
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 for gene: DYM

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DYM was added gene: DYM was added to Inborn errors of metabolism. Sources: 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; Smith-McCort dysplasia, 607326