Congenital Disorders of Glycosylation
Gene: DSEComment when marking as ready: Link to CDGs unclear.Created: 22 Jul 2020, 6:08 a.m. | Last Modified: 22 Jul 2020, 6:08 a.m.
Panel Version: 0.100
PMID: 23704329;
1x patient born of consanguineous family homozygous for c.803C>T, p.S268L. Patient-derived fibroblasts also showed a significant reduction in epimerase activity. Amount of dermatan sulfate (DS) disaccharides was markedly decreased.Created: 21 Jul 2020, 11:38 p.m. | Last Modified: 21 Jul 2020, 11:38 p.m.
Panel Version: 0.96
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539)
Publications
Gene: dse has been classified as Red List (Low Evidence).
Phenotypes for gene: DSE were changed from to Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539)
Publications for gene: DSE were set to
Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: dse has been classified as Red List (Low Evidence).
gene: DSE was added gene: DSE was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSE was set to Unknown