PRRX1

paired related homeobox 1
OMIM: 167420, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PRRX1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Agnathia-otocephaly complex, OMIM:202650
Green PRRX1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Agnathia-otocephaly complex, OMIM:202650
  • craniosynostosis, MONDO:0015469
  • craniosynostosis, various combinations of sutures
Green PRRX1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • AGNATHIA-OTOCEPHALY COMPLEX biallelic
    • AGNATHIA-OTOCEPHALY COMPLEX monoallelic
    Red PRRX1 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Phenotypes
    • Agnathia-otocephaly complex, OMIM:202650