Aortopathy_Connective Tissue Disorders
Gene: DSEEnsemblGeneIds (GRCh38): ENSG00000111817
EnsemblGeneIds (GRCh37): ENSG00000111817
OMIM: 605942, Gene2Phenotype
DSE is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).
8 cases from 6 unrelated families have been reported with homozygous variants.
Sources: Expert listCreated: 1 Jul 2020, 6:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 2 MIM#615539
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Ehlers-Danlos syndrome, musculocontractural type 2 MIM#615539
- OMIM
- 605942
- Clinvar variants
- Variants in DSE
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dse has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dse has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DSE was added gene: DSE was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSE were set to 28306229; 23704329; 25703627; 32130795 Phenotypes for gene: DSE were set to Ehlers-Danlos syndrome, musculocontractural type 2 MIM#615539 Review for gene: DSE was set to GREEN