STT3A:Ensemblv115

STT3 oligosaccharyltransferase complex catalytic subunit A
OMIM: 601134, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green STT3A in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iw, AR, OMIM #615596
  • Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714

Green STT3A in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iw, AR, OMIM #615596
  • Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714

Green STT3A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iw MIM#615596

Green STT3A in Growth failure


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iw, AR, OMIM #615596
  • Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714