Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: STT3A

Amber List (moderate evidence)

STT3A (STT3A, catalytic subunit of the oligosaccharyltransferase complex)
EnsemblGeneIds (GRCh38): ENSG00000134910
EnsemblGeneIds (GRCh37): ENSG00000134910
OMIM: 601134, Gene2Phenotype
STT3A is in 5 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is enough evidence to support a gene-disease association, and so STT3A should be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag).

ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)
Created: 15 Oct 2020, 3:14 p.m. | Last Modified: 15 Oct 2020, 3:14 p.m.
Panel Version: 3.451
Removed 'watchlist' tag as now the number of unrelated cases reaches threshold for a Green rating on this panel
Created: 15 Oct 2020, 3:01 p.m. | Last Modified: 15 Oct 2020, 3:01 p.m.
Panel Version: 3.450

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported now, DD/ID is part of the phenotype.
Created: 29 Feb 2020, 3:26 a.m. | Last Modified: 29 Feb 2020, 3:26 a.m.
Panel Version: 3.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iw; OMIM #615596

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW

Publications

Rebecca Foulger (Genomics England curator)

PMID:28424003 (Ghosh et al., 2017) describe 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in TUSC3. Common phenotypic features in all symptomatic individuals include developmental delay, intellectual disability, with absent speech and seizures.
Created: 25 Sep 2017, 9:39 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type Iw, 615596
Tags
for-review
OMIM
601134
Clinvar variants
Variants in STT3A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: stt3a has been classified as Amber List (Moderate Evidence).

15 Oct 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw, 615596; developmental delay; intellectual disability to Congenital disorder of glycosylation, type Iw, 615596

15 Oct 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: STT3A were set to 28424003; 23842455

15 Oct 2020, Gel status: 2

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: STT3A. Tag for-review tag was added to gene: STT3A.

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to STT3A. Panel: Intellectual disability Publications for gene STT3A was set to ['28424003', ' 23842455']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

STT3A was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STT3A was created by ellenmcdonagh