STT3B

STT3B, catalytic subunit of the oligosaccharyltransferase complex
OMIM: 608605, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red STT3B in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.44

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Ix 615597

    Red STT3B in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of glycosylation, type Ix 615597

    Red STT3B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • ?Congenital disorder of glycosylation, type Ix
    • OMIM #615597