PanelApp
  1. Genes and Genomic Entities
  2. DDOST

DDOST

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
OMIM: 602202, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DDOST in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.78

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • DDOST-congenital disorder of glycosylation MONDO:0013789

    Green DDOST in Mendeliome


    Version 1.3512

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • DDOST-congenital disorder of glycosylation MONDO:0013789
    • inherited oocyte maturation defect MONDO:0014769

    Green DDOST in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • DDOST-congenital disorder of glycosylation MONDO:0013789

    Red DDOST in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Congenital disorder of glycosylation, type Ir

    Red DDOST in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Congenital disorder of glycosylation, type Ir, MIM# 614507

    Red DDOST in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Congenital disorder of glycosylation, type Ir

    Amber DDOST in Infertility and Recurrent Pregnancy Loss


    Version 1.50

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • inherited oocyte maturation defect MONDO:0014769