Peroxisomal disorders
Gene: DYM
DYM (dymeclin)
EnsemblGeneIds (GRCh38): ENSG00000141627
EnsemblGeneIds (GRCh37): ENSG00000141627
OMIM: 607461, Gene2Phenotype
DYM is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000141627
EnsemblGeneIds (GRCh37): ENSG00000141627
OMIM: 607461, Gene2Phenotype
DYM is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P. At least nine variants reported in Dyggve-Melchior-Clausen disease 223800Created: 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