GCNT2

glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
OMIM: 600429, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green GCNT2 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Adult i Blood Group With or Without Congenital Cataract
  • [Blood group, Ii], 110800
Red GCNT2 in Structural eye disease


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 13 with adult i phenotype, 116700