Congenital disorders of glycosylation
Gene: DHDDS

DHDDS (dehydrodolichyl diphosphate synthase subunit)
EnsemblGeneIds (GRCh38): ENSG00000117682
EnsemblGeneIds (GRCh37): ENSG00000117682
OMIM: 608172, Gene2Phenotype
DHDDS is in 12 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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 defects
Created: 15 Dec 2016, 4:23 p.m.

Created: 15 Dec 2016, 4:23 p.m.

Panel version: 0.55

Daniel Ungar (University of York, Department of Biology)

Red List (low evidence)

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

27343064

Created: 12 Dec 2016, 1:55 p.m.

Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Retinitis pigmentosa 59, OMIM:613861
?Congenital disorder of glycosylation, type 1bb, OMIM:613861

OMIM

608172

Clinvar variants

Variants in DHDDS

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

28 Oct 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

13 Aug 2019, Gel status: 1