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 6.181
Latest signed off version: v6.0 (30 Apr 2025)

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 6.23
Latest signed off version: v6.5 (30 Apr 2025)

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