PAX3

paired box 3
OMIM: 606597, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red PAX3 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.4

review Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma, alveolar, 268220

Green PAX3 in Limb disorders


Version 2.39
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Waardenburg syndrome, type 3, 148820

    Green PAX3 in Pigmentary skin disorders


    Version 1.9
    Latest signed off version: v1.4 (15 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • WAARDENBURG SYNDROME, TYPE 1
    • WS3
    • Waardenburg syndrome
    • WS1, WAARDENBURG SYNDROME, TYPE 3

    Red PAX3 in Sarcoma cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.20

    review Other - please specifiy in evaluation comments
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Rhabdomyosarcoma, alveolar, 268220

    Green PAX3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.85
    Latest signed off version: v2.84 (16 Dec 2021)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Craniofacial-deafness-hand syndrome, 122880
    • Waardenburg syndrome, type 1, 193500
    • Waardenburg syndrome, type 3, 148820

    Green PAX3 in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • WAARDENBURG SYNDROME, TYPE 1
    • CRANIOFACIAL-DEAFNESS-HAND SYNDROME

    Red PAX3 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.23
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Waardenburg syndrome
    • Craniofacial-deafness-hand syndrome

    Red PAX3 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.13
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Craniofacial-Deafness-Hand Syndrome

    Green PAX3 in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • WAARDENBURG SYNDROME, TYPE 1 193500
    • CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880

    Green PAX3 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.159
    Latest signed off version: v2.158 (29 Jun 2021)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • #122880:Craniofacial-deafness-hand syndrome
    • #148820:Waardenburg syndrome, type 3
    • #193500:Waardenburg syndrome, type 1
    • #268220:Rhabdomyosarcoma 2, alveolar

    Green PAX3 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.24
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • WAARDENBURG

    Red PAX3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Waardenburg syndrome, type 1, 193500
    • Waardenburg syndrome, type
    • 3, 148820
    • Craniofacial-deafness-hand syndrome, 122880
    • Rhabdomyosarcoma 2, alveolar, 268220

    Red PAX3 in Structural eye disease


    Version 1.52
    Latest signed off version: v1.3 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Waardenburg syndrome, type 1, 193500
    • Waardenburg syndrome, type 3, 148820

    Red PAX3 in Sarcoma susceptibility


    Version 1.75
    Latest signed off version: v1.74 (8 Apr 2021)

    review Other - please specifiy in evaluation comments
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Rhabdomyosarcoma, alveolar, OMIM:268220

    Green PAX3 in Severe Paediatric Disorders


    Version 1.66

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rhabdomyosarcoma 2, alveolar, 268220
    • Waardenburg syndrome, type 3, 148820
    • Craniofacial-deafness-hand syndrome, 122880
    • Waardenburg syndrome, type 1, 193500