Congenital disorders of glycosylation
Gene: DHDDSComment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One variant reported in at least 15 families with retinitis pigmentosa, but only one individual with glycosylation defectsCreated: 15 Dec 2016, 4:23 p.m.
Only one patient with confirmed glycosylation defects has been identified. Several other patients with milder mutations suffer from retinitis pigmentosa, without glycosylation defects.Created: 12 Dec 2016, 1:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59 613861; ?Congenital disorder of glycosylation, type 1bb 613861 to Retinitis pigmentosa 59, OMIM:613861; ?Congenital disorder of glycosylation, type 1bb, OMIM:613861
Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59 613861 to Retinitis pigmentosa 59 613861; ?Congenital disorder of glycosylation, type 1bb 613861
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
Publications for DHDDS were set to 27343064; 21295282; 21295283
This gene has been classified as Red List (Low Evidence).
Publications for DHDDS were set to 27343064
DHDDS was added to Congenital disorders of glycosylationpanel. Source: UKGTN
DHDDS was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
DHDDS was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
DHDDS was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
DHDDS was created by sleigh