SMOC2

SPARC related modular calcium binding 2
OMIM: 607223, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SMOC2 in Amelogenesis imperfecta


Level 2: Musculoskeletal
Version 4.36
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dentin dysplasia, type IA, OMIM:125400
  • atypical dentin dysplasia due to SMOC2 deficiency, MONDO:0017819
  • dentin dysplasia type 1 with microdontia and shape anomalies
Red SMOC2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.12
Latest signed off version: v7.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Dentin dysplasia, type I, with microdontia and misshapen teeth, OMIM:125400
Green SMOC2 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH 125400