Congenital Disorders of Glycosylation
Gene: DDOST

DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000244038
EnsemblGeneIds (GRCh37): ENSG00000244038
OMIM: 602202, Gene2Phenotype
DDOST is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

PMID:34462534 reported the identification of homozygous DDOST variant (c.1187G>A) in a Chinese patient who presented with feeding difficulty, lactose intolerance, facial dysmorphism, failure to thrive, strabismus, high myopia, astigmatism, hypotonia, developmental delay and situs inversus totalis. Serum transferrin isoelectrofocusing demonstrated defective glycosylation in the patient.
Created: 17 Jul 2024, 2:07 p.m. | Last Modified: 17 Jul 2024, 2:07 p.m.

Panel Version: 1.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ir, OMIM:614507

Publications

34462534

Created: 17 Jul 2024, 2:07 p.m.
Last Modified: 17 Jul 2024, 2:07 p.m.
Panel version: 1.44

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported with supportive functional data.
Created: 21 Jan 2020, 11:56 p.m. | Last Modified: 21 Jan 2020, 11:56 p.m.

Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ir, MIM# 614507

Publications

22305527

Created: 21 Jan 2020, 11:56 p.m.
Last Modified: 21 Jan 2020, 11:56 p.m.
Panel version: 0.8

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of glycosylation, type Ir, MIM# 614507

OMIM

602202

Clinvar variants

Variants in DDOST

Penetrance

None

Publications

22305527

Panels with this gene