GCNT2:Ensemblv90

glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
OMIM: 600429, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green GCNT2 in Cataract


Level 2: Ophthalmological disorders
Version 0.396

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 13 with adult i phenotype, OMIM # 116700

Green GCNT2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 13 with adult i phenotype, OMIM # 116700

Green GCNT2 in Cataract


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Cataract 13 with adult i phenotype, OMIM # 116700