Genomics England
GMS Panels
Panels
Genes and Entities

PRRX1

paired related homeobox 1
OMIM: 167420
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
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 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Agnathia-otocephaly complex, OMIM:202650, craniosynostosis, MONDO:0015469, craniosynostosis, various combinations of sutures