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 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

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