Genomics England
GMS Panels
Panels
Genes and Entities

PAX1

paired box 1
OMIM: 167411
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OTOFACIOCERVICAL SYNDROME, OMIM:166780
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Otofaciocervical syndrome 2, OMIM:615560
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Otofaciocervical syndrome 2, 615560, Syndromic SCID, dysmorphism, ear abnormalities, otofaciocervical syndrome