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  3. STT3B
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Fetal anomalies

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

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Not green on any panels. Just a single patient reported with this condition (that presented with hydrops) in panelapp reviews. Also this paper but a homozygous missesnse variant and paper in Turkish so cannot see if functional work has been performed. PMID:32253875. Red.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ix, OMIM:615597

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type Ix, OMIM:615597
OMIM
608605
Clinvar variants
Variants in STT3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: STT3B was added gene: STT3B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STT3B were set to 33082562 Phenotypes for gene: STT3B were set to Congenital disorder of glycosylation, type Ix, OMIM:615597