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Likely inborn error of metabolism

Gene: DDOST

Green List (high evidence)
DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000244038
EnsemblGeneIds (GRCh37): ENSG00000244038
OMIM: 602202, Gene2Phenotype
DDOST is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 9:09 a.m. | Last Modified: 25 Feb 2025, 9:09 a.m.
Panel Version: 7.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 25 Feb 2025, 9:09 a.m.
Last Modified: 25 Feb 2025, 9:09 a.m.
Panel version: 7.12

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Two unrelated cases and functional evidence are available in support of the association of this gene with congenital disorder glycosylation and hence recommended for green rating on the Congenital disorders of glycosylation panel (https://panelapp.genomicsengland.co.uk/panels/25/gene/DDOST/) This gene should therefore promoted to green rating in the next GMS update.
Created: 18 Nov 2024, 5:56 p.m. | Last Modified: 18 Nov 2024, 5:56 p.m.
Panel Version: 7.8
PMID:22305527 reported the identification of compound heterozygous variants in DDOST gene (c.1265_1286del22/ p.Ile422Thrfs∗7 & c.650G>A/ p.Gly217Asp) in an untyped congenital disorder of glycosylation (CDG) patient. Biochemical analysis revealed that N-glycosylation was decreased in the patient's fibroblasts and complementation with wild-type-DDOST cDNA in patient fibroblasts restored glycosylation, indicating that the mutations were pathological.

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.

This gene has been associated with relevant phenotypes in both OMIM (MIM #614507) and Gene2Phenotype (with 'definitive' rating on the DD panel).
Created: 18 Nov 2024, 5:51 p.m. | Last Modified: 18 Nov 2024, 5:51 p.m.
Panel Version: 7.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 18 Nov 2024, 5:51 p.m.
Last Modified: 18 Nov 2024, 5:51 p.m.
Panel version: 7.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type Ir, OMIM:614507
OMIM
602202
Clinvar variants
Variants in DDOST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: DDOST.

25 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to DDOST. Source Expert Review Green was added to DDOST. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: ddost has been classified as Amber List (Moderate Evidence).

18 Nov 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DDOST were changed from ?Congenital disorder of glycosylation, type Ir 614507 to Congenital disorder of glycosylation, type Ir, OMIM:614507

18 Nov 2024, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: DDOST were set to 22305527

18 Nov 2024, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: DDOST.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DDOST was added gene: DDOST was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDOST were set to 22305527 Phenotypes for gene: DDOST were set to ?Congenital disorder of glycosylation, type Ir 614507