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Intellectual disability

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 6 panels

5 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Leaving Green until the next major review, but the evidence does not support a green rating; this gene should be demoted to amber or red.
Created: 24 Sep 2020, 6:06 p.m. | Last Modified: 24 Sep 2020, 6:06 p.m.
Panel Version: 3.336
Provisional association with ?Congenital disorder of glycosylation, type Ir MIM#614507 in OMIM, Confirmed association with CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR in Gene2Phenotype.

PMID: 22305527 - Jones et al 2012 - report 1 family of Northern European decent, with a child that presented at 6 months of age with failure to thrive, gastresophageal reflux disease, developmental delay, ear infections, and oromotor dysfunction. At 7.5 years he is without language. WES targeting ∼22,000 genes detected two mutations in DDOST; a 22 bp deletion in exon 11 (c.1265_1286del22) that results in a stop codon downstream (p.Ile422Thrfs∗7) and a missense mutation (c.650G>A) (p.Gly217Asp) in exon 6 at a conserved residue. The missense mutation was inherited from the mother and the deletion was inherited from the father. Biochemical analysis with three biomarkers revealed that N-glycosylation was decreased in the patient's fibroblasts.

A PubMed search did not find any further cases.
Created: 24 Sep 2020, 6:04 p.m. | Last Modified: 24 Sep 2020, 6:04 p.m.
Panel Version: 3.335

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Congenital disorder of glycosylation, type Ir, 614507; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR

Publications

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported with supportive functional data, gene is RED on CDG panel.
Created: 1 Feb 2020, 8:57 a.m. | Last Modified: 1 Feb 2020, 8:57 a.m.
Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR; CDG1R

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 5:31 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR
  • CDG1R
Tags
for-review
OMIM
602202
Clinvar variants
Variants in DDOST
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ddost has been classified as Green List (High Evidence).

24 Sep 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: DDOST.

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to DDOST.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DDOST was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DDOST was added to Intellectual disabilitypanel. Sources: Expert Review Green