SLC16A12

solute carrier family 16 member 12
OMIM: 611910, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SLC16A12 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 47, juvenile, with microcornea 612018

Green SLC16A12 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 47, juvenile, with microcornea, MIM# 612018

Red SLC16A12 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Cataract, juvenile with microcornea and renal glucosuria

Red SLC16A12 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Cataract, juvenile with microcornea and renal glucosuria