Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: DDOST

Amber List (moderate evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported with supportive functional data.
Created: 22 Jan 2020, 12:01 a.m. | Last Modified: 22 Jan 2020, 12:01 a.m.
Panel Version: 0.1643

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Congenital disorder of glycosylation, type Ir, MIM# 614507
OMIM
602202
Clinvar variants
Variants in DDOST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DDOST were set to

22 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DDOST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DDOST was added gene: DDOST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DDOST was set to Unknown