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DDG2P

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for STT3A-related congenital disorder of glycosylation are limited, biallelic_autosomal and undetermined (PMID:23842455). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01064. The DDG2P confidence category, allelic requirement and molecular mechanism for STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease are strong, monoallelic_autosomal and undetermined (PMID:34653363). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03226.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:34653363). The DDG2P confidence category for the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OMIM:615596 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:23842455).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM:615596.0; MONDO:0859223; STT3A-related congenital disorder of glycosylation; OMIM:619714.0; STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OMIM:615596

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW 615596
OMIM
601134
Clinvar variants
Variants in STT3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: STT3A was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to STT3A. Mode of inheritance for gene STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene STT3A was changed from Other - please provide details in the comments to Other Publications for gene: STT3A were updated from 23842455 to 23842455; 34653363 Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: STT3A was added gene: STT3A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype 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 Mode of pathogenicity for gene: STT3A was set to Other - please provide details in the comments