Peroxisomal disorders

Gene: DYM

Green List (high evidence)

DYM (dymeclin)
EnsemblGeneIds (GRCh38): ENSG00000141627
EnsemblGeneIds (GRCh37): ENSG00000141627
OMIM: 607461, Gene2Phenotype
DYM is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and G2P. At least nine variants reported in Dyggve-Melchior-Clausen disease 223800
Created: 23 Aug 2016, 10:57 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyggve-Melchior-Clausen disease, 223800
  • Smith-McCort dysplasia, 607326
OMIM
607461
Clinvar variants
Variants in DYM
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

23 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for DYM was changed to BIALLELIC, autosomal or pseudoautosomal

23 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

DYM was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

23 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DYM were set to Dyggve-Melchior-Clausen disease, 223800; Smith-McCort dysplasia, 607326

19 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DYM was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DYM was created by sleigh