Genomics England
GMS Panels
Panels
Genes and Entities

PRRX1

paired related homeobox 1
OMIM: 167420
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AGNATHIA-OTOCEPHALY COMPLEX biallelic, AGNATHIA-OTOCEPHALY COMPLEX monoallelic
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Agnathia-otocephaly complex, OMIM:202650
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Agnathia-otocephaly complex, OMIM:202650, craniosynostosis, MONDO:0015469, craniosynostosis, various combinations of sutures