SLC13A1:Ensemblv90

solute carrier family 13 member 1
OMIM: 606193, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SLC13A1 in Mendeliome


Version 1.3802

2 reviews 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 0.365

3 reviews 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 1.0

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