1. Genes and Genomic Entities
  2. PAX3

PAX3

paired box 3
OMIM: 606597, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Red PAX3 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.6

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


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

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


    Level 2: Dermatology
    Version 4.13
    Latest signed off version: v4.0 (30 Apr 2025)

    		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 1.26

    		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 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Waardenburg syndrome
    • Craniofacial-deafness-hand syndrome
    Red PAX3 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Craniofacial-Deafness-Hand Syndrome
    Green PAX3 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • WAARDENBURG SYNDROME, TYPE 1 193500
    • CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880
    Green PAX3 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  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 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    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 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		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


    Level 2: Cancer susceptibility
    Version 1.82
    Latest signed off version: v1.2 (18 Feb 2020)

    		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