PRRX1

paired related homeobox 1
OMIM: 167420, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PRRX1 in Craniosynostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 2.9
Signed off v.2.2 on 13 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review
Phenotypes
  • craniosynostosis, various combinations of sutures

Red PRRX1 in DDG2P


Version 2.8
Signed off v.2.2 on 13 Feb 2020

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 Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.37
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Expert