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  2. Congenital Disorders of Glycosylation
  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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported.
Created: 26 Jan 2020, 9:37 a.m. | Last Modified: 26 Jan 2020, 9:37 a.m.
Panel Version: 0.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ix 615597

Publications

Created: 26 Jan 2020, 9:37 a.m.
Last Modified: 26 Jan 2020, 9:37 a.m.
Panel version: 0.26

Details

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

History Filter Activity

26 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stt3b has been classified as Red List (Low Evidence).

26 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: STT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

26 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STT3B were changed from Congenital disorder of glycosylation, type Ix 615597 to Congenital disorder of glycosylation, type Ix 615597

26 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STT3B were changed from to Congenital disorder of glycosylation, type Ix 615597

26 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STT3B were set to

26 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stt3b has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STT3B was added gene: STT3B was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STT3B was set to Unknown