AGBL1

ATP/GTP binding protein like 1
OMIM: 615496, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber AGBL1 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
Red AGBL1 in Structural eye disease


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 8, 615523