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Inborn errors of metabolism

Gene: DDOST

Red List (low evidence)

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

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Details

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

History Filter Activity

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