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Likely inborn error of metabolism

Gene: STT3A

Green List (high evidence)
STT3A (STT3A, catalytic subunit of the oligosaccharyltransferase complex)
EnsemblGeneIds (GRCh38): ENSG00000134910
EnsemblGeneIds (GRCh37): ENSG00000134910
OMIM: 601134, Gene2Phenotype
STT3A is in 7 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
Created: 1 Feb 2023, 10:24 a.m.
Last Modified: 1 Feb 2023, 10:24 a.m.
Panel version: 3.6

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Updated from 'biallelic' to 'both mono- and biallelic' - congenital disorder of glycosylation due to STT3A has been identified in at least 3 families with biallelic variants (PMIDs: 23842455; 30701557; 28424003) and 9 families with monoallelic variants (PMID: 34653363)
Created: 19 Jul 2022, 9:58 a.m. | Last Modified: 19 Jul 2022, 9:58 a.m.
Panel Version: 2.262
Created: 19 Jul 2022, 9:58 a.m.
Last Modified: 19 Jul 2022, 9:58 a.m.
Panel version: 2.262

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three families reported to date.
Created: 31 Jan 2021, 9:25 a.m. | Last Modified: 31 Jan 2021, 9:25 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Jan 2021, 9:25 a.m.
Last Modified: 31 Jan 2021, 9:25 a.m.
Panel version: 2.51

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714
  • Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
OMIM
601134
Clinvar variants
Variants in STT3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: STT3A.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to STT3A. Source Expert Review Green was added to STT3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Jul 2022, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Jul 2022, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: STT3A.

19 Jul 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: STT3A were set to 23842455

19 Jul 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw 615596 to Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714; Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: STT3A was added gene: STT3A was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: STT3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STT3A were set to 23842455 Phenotypes for gene: STT3A were set to ?Congenital disorder of glycosylation, type Iw 615596