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  2. Congenital Disorders of Glycosylation
  3. OSTC
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Congenital Disorders of Glycosylation

Gene: OSTC

Red List (low evidence)
OSTC (oligosaccharyltransferase complex non-catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000198856
EnsemblGeneIds (GRCh37): ENSG00000198856
OSTC is in 3 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

A patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.
Patient was homozygous for a canonical splice variant (c.431 + 1G > A), mRNA from patient's fibroblast showed mRNA transcript reduced 80-90%/aberrant splicing - predicting NMD.
GnomAD - 10 hets, 0 hom
Sources: Literature
Sources: Literature
Created: 18 Oct 2021, 5:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oligosaccharyltransferase complex-congenital disorders of glycosylation

Publications

Created: 18 Oct 2021, 5:47 a.m.

Panel version: 1.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Oligosaccharyltransferase complex-congenital disorders of glycosylation
Clinvar variants
Variants in OSTC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Oct 2021, Gel status: 0

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

Belinda Chong (Victorian Clinical Genetics Services)

gene: OSTC was added gene: OSTC was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSTC were set to PMID: 32267060 Phenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation Review for gene: OSTC was set to RED