SLC13A1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SLC13A1 in Mendeliome


Version 2.624

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyposulfataemia with skeletal dysplasia, MIM# 621654

Amber SLC13A1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.153

4 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyposulfataemia with skeletal dysplasia, MIM# 621654