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  3. STT3B
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Congenital disorders of glycosylation

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 5 panels

1 review

Daniel Ungar (University of York, Department of Biology)

Red List (low evidence)

Single known patient so far, but biochemistry is a strong indicator that other cases could be present.
Created: 12 Dec 2016, 3:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 Dec 2016, 3:22 p.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Other
Phenotypes
  • ?Congenital disorder of glycosylation, type Ix 615597
OMIM
608605
Clinvar variants
Variants in STT3B
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

STT3B was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

STT3B was added to Congenital disorders of glycosylationpanel. Sources: Other

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

STT3B was created by sleigh