OSTC

oligosaccharyltransferase complex non-catalytic subunit
OMIM: 619023, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red OSTC in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Oligosaccharyltransferase complex-congenital disorders of glycosylation

Red OSTC in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Oligosaccharyltransferase complex-congenital disorders of glycosylation

Red OSTC in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Oligosaccharyltransferase complex-congenital disorders of glycosylation