SF3B2

splicing factor 3b subunit 2
OMIM: 605591, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber SF3B2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Craniofacial microsomia, OMIM:164210
Green SF3B2 in Clefting


Level 2: Musculoskeletal
Version 7.9
Latest signed off version: v7.8 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Craniofacial microsomia