SLC16A12

solute carrier family 16 member 12
OMIM: 611910, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SLC16A12 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract 47, juvenile, with microcornea, OMIM:612018
  • juvenile cataract-microcornea-renal glucosuria syndrome, MONDO:0012786
Green SLC16A12 in Corneal abnormalities

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cataract, juvenile, with microcornea and glucosuria, 612018
Amber SLC16A12 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
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cataract, juvenile, with microcornea and glucosuria, 612018