SLC13A1

solute carrier family 13 member 1
OMIM: 606193, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SLC13A1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • sulfation-related bone disorder MONDO:0019688, SLC13A1-related

Amber SLC13A1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • sulfation-related bone disorder MONDO:0019688, SLC13A1-related