UGGT1:Ensemblv115

UDP-glucose glycoprotein glucosyltransferase 1
OMIM: 605897, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green UGGT1 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IICC, MIM# 621381

Green UGGT1 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IICC, MIM# 621381

Green UGGT1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IICC, MIM# 621381

Green UGGT1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IICC, MIM# 621381

Amber UGGT1 in Renal Macrocystic Disease


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type IICC, MIM# 621381

Green UGGT1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IICC, MIM# 621381