PRRX1

paired related homeobox 1
OMIM: 167420, Gene2Phenotype

4 panels

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


Version 3.135
Latest signed off version: v3.0 (22 Mar 2023)

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 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.177
Latest signed off version: v4.0 (22 Mar 2023)

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
Red PRRX1 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • AGNATHIA-OTOCEPHALY COMPLEX biallelic
    • AGNATHIA-OTOCEPHALY COMPLEX monoallelic
    Red PRRX1 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.25
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

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