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Inborn errors of metabolism

Gene: STT3B

Red List (low evidence)

STT3B (STT3B, catalytic subunit of the oligosaccharyltransferase complex)
EnsemblGeneIds (GRCh38): ENSG00000163527
EnsemblGeneIds (GRCh37): ENSG00000163527
OMIM: 608605, Gene2Phenotype
STT3B is in 4 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Congenital disorder of glycosylation, type Ix 615597
OMIM
608605
Clinvar variants
Variants in STT3B
Penetrance
None
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 Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: STT3B was added gene: STT3B was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STT3B were set to ?Congenital disorder of glycosylation, type Ix 615597