SP6

Sp6 transcription factor
OMIM: 608613, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green SP6 in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Amelogenesis Imperfecta, MONDO:0019507