Genomics England
GMS Panels
Panels
Genes and Entities

PAX3

paired box 3
OMIM: 606597
PanelMode of inheritanceDetails
7 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
WAARDENBURG
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
WAARDENBURG SYNDROME, TYPE 1 193500, CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
WAARDENBURG SYNDROME, TYPE 1, CRANIOFACIAL-DEAFNESS-HAND SYNDROME
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Waardenburg syndrome, type 3, 148820
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.79
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
#122880:Craniofacial-deafness-hand syndrome, #148820:Waardenburg syndrome, type 3, #193500:Waardenburg syndrome, type 1, #268220:Rhabdomyosarcoma 2, alveolar
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
WAARDENBURG SYNDROME, TYPE 1, WS3, Waardenburg syndrome, WS1, WAARDENBURG SYNDROME, TYPE 3
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.26
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Craniofacial-deafness-hand syndrome, 122880, Waardenburg syndrome, type 1, 193500, Waardenburg syndrome, type 3, 148820