B3GALT1

beta-1,3-galactosyltransferase 1
OMIM: 603093, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
No list B3GALT1 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Peters-plus syndrome, 261540
Tags
  • curated_removed
No list B3GALT1 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Peters-plus syndrome, 261540
Tags
  • curated_removed