SLCO5A1

solute carrier organic anion transporter family member 5A1
OMIM: 613543, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red SLCO5A1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Mesomelia-synostoses syndrome 600383
  • Mesomelia-synostoses syndrome 600383