TP63

tumor protein p63
OMIM: 603273, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red TP63 in Peeling skin syndrome

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.2

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Hay-Wells syndrome, 106260
  • Red, cracking, peeling skin at birth

Red TP63 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

review Not set
Sources
  • Emory Genetics Laboratory

Red TP63 in Epidermolysis bullosa and congenital skin fragility


Version 1.3
Signed off v.1.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Hay-Wells syndrome, 106260
  • Red, cracking, peeling skin at birth

Green TP63 in Limb disorders


Version 2.5
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • ULT syndrome 103285
    • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292
    • Hay-Wells syndrome 106260
    • Limb-mammary syndrome 603543
    • Orofacial cleft 8 129400
    • Rapp-Hodgkin syndrome 129400
    • Split-hand/foot malformation 4 605289

    Green TP63 in Ectodermal dysplasia


    Version 1.6
    Signed off v.1.3 on 19 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Limb-mammary syndrome, 603543
    • Rapp-Hodgkin Syndrome
    • ADULT syndrome, 103285
    • Orofac
    • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292
    • Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate
    • Orofacial cleft 8, 129400
    • Hay-Wells syndrome, 106260
    • ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3
    • Split-Hand/foot Malformation 4
    • Split-hand/foot malformation 4, 605289
    • ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE
    • Rapp-Hodgkin syndrome, 129400
    • Limb-Mammary Syndrome
    • ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
    • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3
    • Adult Syndrome

    Green TP63 in Ectodermal dysplasia without a known gene mutation

    Level 3: Ectodermal dysplasias
    Level 2: Dermatological disorders
    Version 1.19

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    Phenotypes
    • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292
    • Split-hand/foot malformation 4, 605289
    • Hay-Wells syndrome, 106260
    • ADULT syndrome, 103285
    • Limb-mammary syndrome, 603543
    • Rapp-Hodgkin syndrome, 129400
    • Orofacial cleft 8, 129400
    • Orofac
    • Adult Syndrome
    • Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate
    • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3
    • Limb-Mammary Syndrome
    • Rapp-Hodgkin Syndrome
    • Split-Hand/foot Malformation 4
    • ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE
    • ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3
    • ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

    Green TP63 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.7
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Rapp-Hodgkin syndrome 129400
    • Orofacial cleft 8 129400
    • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292
    • Hay-Wells syndrome 106260
    • ULT syndrome 103285
    • Split-hand/foot malformation 4 605289
    • Limb-mammary syndrome 603543

    Red TP63 in Non-syndromic familial congenital anorectal malformations

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.6

    review Not set
    Sources
    • Literature

    Red TP63 in Amelogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.5
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta

    Green TP63 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE
    • ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3
    • SPLIT-HAND/FOOT MALFORMATION TYPE 4
    • ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
    • LIMB-MAMMARY SYNDROME
    • NON-SYNDROMIC OROFACIAL CLEFT TYPE 8
    • ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME

    Green TP63 in DDG2P


    Version 2.8
    Signed off v.2.2 on 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
    • ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE 129400
    • NON-SYNDROMIC OROFACIAL CLEFT TYPE 8 129400
    • SPLIT-HAND/FOOT MALFORMATION TYPE 4 605289
    • ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106260
    • ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3 604292
    • LIMB-MAMMARY SYNDROME 603543
    • ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME 103285

    Green TP63 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.3
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292
    • Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400
    • EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting)
    • AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260
    • Limb-mammary syndrome, 603543
    • ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
    • EEC3
    • Cleft lip

    Amber TP63 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.82
    Signed off v.3.2 on 13 Feb 2020

    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 Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome
    • 3, 604292
    • Split-hand/foot malformation 4, 605289
    • Hay-Wells syndrome, 106260
    • ADULT syndrome, 103285
    • Limb-mammary syndrome, 603543
    • Rapp-Hodgkin syndrome, 129400
    • Orofacial cleft 8, 129400

    Green TP63 in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Orofacial cleft 8, 618149
    • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292
    • Hay-Wells syndrome, 106260
    • Split-hand/foot malformation 4, 605289
    • ADULT syndrome, 103285
    • Limb-mammary syndrome, 603543
    • Rapp-Hodgkin syndrome, 129400